ClinVar Miner

List of variants in gene DHCR7 studied for Smith-Lemli-Opitz syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 833
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.438T>C (p.Asn146=) rs949177 0.90629
NM_001360.3(DHCR7):c.207T>C (p.Thr69=) rs1790334 0.90380
NM_001360.3(DHCR7):c.*734A>G rs7690 0.86392
NM_001360.3(DHCR7):c.832-80T>C rs949176 0.86228
NM_001360.3(DHCR7):c.1158T>C (p.Asp386=) rs760241 0.85831
NM_001360.3(DHCR7):c.*643C>T rs1044535 0.84530
NM_001360.3(DHCR7):c.831+69G>A rs1792265 0.83923
NM_001360.3(DHCR7):c.964-67C>T rs1792268 0.83849
NM_001360.3(DHCR7):c.189G>A (p.Gln63=) rs1044482 0.59041
NM_001360.3(DHCR7):c.1272C>T (p.Gly424=) rs909217 0.56172
NM_001360.3(DHCR7):c.322-60G>T rs11603330 0.53778
NM_001360.3(DHCR7):c.626+15G>A rs736894 0.30458
NM_001360.3(DHCR7):c.*480C>T rs1790345 0.28111
NM_001360.3(DHCR7):c.231C>T (p.Thr77=) rs4316537 0.08662
NM_001360.3(DHCR7):c.321+34C>A rs76865413 0.05265
NM_001360.3(DHCR7):c.-23T>C rs12573951 0.04501
NM_001360.3(DHCR7):c.-35C>T rs75974711 0.02735
NM_001360.3(DHCR7):c.*451A>G rs11233662 0.01903
NM_001360.3(DHCR7):c.627-29T>G rs74742701 0.01323
NM_001360.3(DHCR7):c.*565G>A rs79320071 0.01308
NM_001360.3(DHCR7):c.*358C>T rs78575838 0.01306
NM_001360.3(DHCR7):c.*119G>A rs151230950 0.01111
NM_001360.3(DHCR7):c.570C>T (p.Ala190=) rs74909468 0.01097
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe) rs115595829 0.00983
NM_001360.3(DHCR7):c.*192C>T rs115338563 0.00961
NM_001360.3(DHCR7):c.-195G>T rs141057811 0.00755
NM_001360.3(DHCR7):c.*226C>T rs185557595 0.00672
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=) rs35946774 0.00608
NM_001360.3(DHCR7):c.*28G>T rs114143715 0.00500
NM_001360.3(DHCR7):c.99-10G>A rs189549129 0.00495
NM_001360.3(DHCR7):c.549C>T (p.Cys183=) rs115446684 0.00470
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00447
NM_001360.3(DHCR7):c.*755C>T rs58046295 0.00355
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser) rs144512551 0.00129
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_001360.3(DHCR7):c.*779T>C rs541282653 0.00081
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met) rs72954276 0.00078
NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile) rs148081697 0.00075
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001360.3(DHCR7):c.-6-4G>A rs183610891 0.00056
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_001360.3(DHCR7):c.*424G>A rs886048616 0.00048
NM_001360.3(DHCR7):c.*85C>T rs528375215 0.00042
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu) rs201466849 0.00041
NM_001360.3(DHCR7):c.582C>T (p.Phe194=) rs150603941 0.00038
NM_001360.3(DHCR7):c.927C>A (p.Gly309=) rs149974099 0.00032
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala) rs139166382 0.00029
NM_001360.3(DHCR7):c.988G>A (p.Val330Met) rs139724817 0.00029
NM_001360.3(DHCR7):c.139C>T (p.Leu47=) rs140721259 0.00027
NM_001360.3(DHCR7):c.586A>G (p.Met196Val) rs200474791 0.00026
NM_001360.3(DHCR7):c.987C>T (p.Pro329=) rs145901607 0.00024
NM_001360.3(DHCR7):c.*417C>T rs537429160 0.00019
NM_001360.3(DHCR7):c.131T>C (p.Ile44Thr) rs142897396 0.00019
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser) rs148609143 0.00019
NM_001360.3(DHCR7):c.729C>T (p.Pro243=) rs145284180 0.00019
NM_001360.3(DHCR7):c.99-5C>T rs372886043 0.00019
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001360.3(DHCR7):c.1088G>A (p.Arg363His) rs200539324 0.00012
NM_001360.3(DHCR7):c.1410G>A (p.Leu470=) rs375993195 0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_001360.3(DHCR7):c.*790C>T rs12407 0.00011
NM_001360.3(DHCR7):c.127G>A (p.Val43Ile) rs200984695 0.00011
NM_001360.3(DHCR7):c.431A>G (p.Gln144Arg) rs776246504 0.00011
NM_001360.3(DHCR7):c.485C>T (p.Ala162Val) rs398123606 0.00011
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007 0.00011
NM_001360.3(DHCR7):c.1269C>T (p.Gly423=) rs145374203 0.00010
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=) rs557097410 0.00010
NM_001360.3(DHCR7):c.615C>T (p.Ser205=) rs561379509 0.00010
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=) rs777517985 0.00009
NM_001360.3(DHCR7):c.1362G>A (p.Lys454=) rs147850435 0.00009
NM_001360.3(DHCR7):c.15G>A (p.Ser5=) rs147038941 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp) rs777425801 0.00009
NM_001360.3(DHCR7):c.690G>C (p.Gly230=) rs773393807 0.00009
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800 0.00009
NM_001360.3(DHCR7):c.122C>T (p.Ala41Val) rs761265690 0.00008
NM_001360.3(DHCR7):c.58A>G (p.Asn20Asp) rs772572550 0.00008
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001360.3(DHCR7):c.123G>A (p.Ala41=) rs376263149 0.00007
NM_001360.3(DHCR7):c.1405C>T (p.Arg469Cys) rs148660993 0.00007
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=) rs148468879 0.00007
NM_001360.3(DHCR7):c.855C>T (p.Phe285=) rs781026169 0.00007
NM_001360.3(DHCR7):c.-146C>T rs903720947 0.00006
NM_001360.3(DHCR7):c.-34T>G rs145915789 0.00006
NM_001360.3(DHCR7):c.1011C>T (p.Ala337=) rs369382960 0.00006
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582 0.00006
NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr) rs140400648 0.00006
NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys) rs199506852 0.00006
NM_001360.3(DHCR7):c.1406G>A (p.Arg469His) rs201150384 0.00006
NM_001360.3(DHCR7):c.522C>T (p.Phe174=) rs140648594 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001360.3(DHCR7):c.92G>A (p.Arg31His) rs370307688 0.00006
NM_001360.3(DHCR7):c.957G>A (p.Thr319=) rs200157761 0.00006
NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys) rs531038145 0.00005
NM_001360.3(DHCR7):c.223A>T (p.Ile75Phe) rs370748173 0.00005
NM_001360.3(DHCR7):c.288C>T (p.Ala96=) rs745595242 0.00005
NM_001360.3(DHCR7):c.303C>T (p.Thr101=) rs777709295 0.00005
NM_001360.3(DHCR7):c.418G>A (p.Val140Met) rs373908315 0.00005
NM_001360.3(DHCR7):c.571G>A (p.Val191Ile) rs532635888 0.00005
NM_001360.3(DHCR7):c.69C>T (p.Thr23=) rs199798127 0.00005
NM_001360.3(DHCR7):c.964-5C>T rs767108226 0.00005
NM_001360.3(DHCR7):c.964-6C>T rs772882845 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_001360.3(DHCR7):c.*57C>T rs182965373 0.00004
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) rs547012639 0.00004
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met) rs567600444 0.00004
NM_001360.3(DHCR7):c.1156G>A (p.Asp386Asn) rs369837196 0.00004
NM_001360.3(DHCR7):c.1224C>T (p.Tyr408=) rs777148033 0.00004
NM_001360.3(DHCR7):c.1366G>A (p.Gly456Ser) rs201847193 0.00004
NM_001360.3(DHCR7):c.147C>T (p.Phe49=) rs771419549 0.00004
NM_001360.3(DHCR7):c.159C>T (p.Ile53=) rs752952700 0.00004
NM_001360.3(DHCR7):c.160G>A (p.Val54Ile) rs779222334 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001360.3(DHCR7):c.241C>T (p.Arg81Trp) rs775735710 0.00004
NM_001360.3(DHCR7):c.294G>A (p.Gln98=) rs1209981156 0.00004
NM_001360.3(DHCR7):c.545G>A (p.Trp182Ter) rs536394774 0.00004
NM_001360.3(DHCR7):c.723G>T (p.Gly241=) rs369654651 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_001360.3(DHCR7):c.770C>T (p.Ala257Val) rs770925697 0.00004
NM_001360.3(DHCR7):c.795T>C (p.His265=) rs1472363309 0.00004
NM_001360.3(DHCR7):c.*4C>T rs371307569 0.00003
NM_001360.3(DHCR7):c.*761A>T rs886048611 0.00003
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs) rs1318653026 0.00003
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter) rs750345068 0.00003
NM_001360.3(DHCR7):c.1267G>A (p.Gly423Ser) rs902179640 0.00003
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=) rs200477386 0.00003
NM_001360.3(DHCR7):c.198C>T (p.Cys66=) rs775127532 0.00003
NM_001360.3(DHCR7):c.222C>G (p.Asp74Glu) rs183441430 0.00003
NM_001360.3(DHCR7):c.289G>A (p.Ala97Thr) rs150563256 0.00003
NM_001360.3(DHCR7):c.318C>T (p.Phe106=) rs1386646132 0.00003
NM_001360.3(DHCR7):c.324G>A (p.Val108=) rs764443524 0.00003
NM_001360.3(DHCR7):c.336G>A (p.Thr112=) rs759750125 0.00003
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=) rs779401555 0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) rs121909767 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001360.3(DHCR7):c.483C>T (p.Asn161=) rs750628746 0.00003
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817 0.00003
NM_001360.3(DHCR7):c.736G>A (p.Val246Ile) rs759967245 0.00003
NM_001360.3(DHCR7):c.822C>T (p.Asn274=) rs139787408 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_001360.3(DHCR7):c.963+8G>A rs769446742 0.00003
NM_001360.3(DHCR7):c.*261G>A rs886048617 0.00002
NM_001360.3(DHCR7):c.*700G>A rs886048612 0.00002
NM_001360.3(DHCR7):c.1005G>A (p.Pro335=) rs768765843 0.00002
NM_001360.3(DHCR7):c.1017C>T (p.Gly339=) rs774757811 0.00002
NM_001360.3(DHCR7):c.1134C>T (p.Ile378=) rs773505265 0.00002
NM_001360.3(DHCR7):c.1159G>A (p.Gly387Arg) rs765707139 0.00002
NM_001360.3(DHCR7):c.1231G>A (p.Asp411Asn) rs372055524 0.00002
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696 0.00002
NM_001360.3(DHCR7):c.1353C>T (p.Cys451=) rs951313798 0.00002
NM_001360.3(DHCR7):c.1369C>T (p.Arg457Trp) rs371873032 0.00002
NM_001360.3(DHCR7):c.1370G>A (p.Arg457Gln) rs886043122 0.00002
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln) rs775034584 0.00002
NM_001360.3(DHCR7):c.261C>A (p.Ala87=) rs1404109723 0.00002
NM_001360.3(DHCR7):c.279G>A (p.Thr93=) rs774554996 0.00002
NM_001360.3(DHCR7):c.321G>C (p.Gln107His) rs104886040 0.00002
NM_001360.3(DHCR7):c.408T>G (p.Pro136=) rs772940271 0.00002
NM_001360.3(DHCR7):c.507G>A (p.Ser169=) rs138185442 0.00002
NM_001360.3(DHCR7):c.520T>G (p.Phe174Val) rs886044698 0.00002
NM_001360.3(DHCR7):c.543G>C (p.Leu181=) rs146839126 0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_001360.3(DHCR7):c.84G>A (p.Gln28=) rs372855459 0.00002
NM_001360.3(DHCR7):c.964-4C>T rs762215750 0.00002
NM_001360.3(DHCR7):c.964-9G>A rs765926518 0.00002
NM_001360.3(DHCR7):c.99-11C>T rs371964662 0.00002
NM_001360.3(DHCR7):c.99-16G>A rs993275449 0.00002
NM_001360.3(DHCR7):c.*101C>G rs1466730753 0.00001
NM_001360.3(DHCR7):c.*25G>A rs778207094 0.00001
NM_001360.3(DHCR7):c.*644G>A rs886048614 0.00001
NM_001360.3(DHCR7):c.*765G>A rs777137931 0.00001
NM_001360.3(DHCR7):c.-132+3G>A rs886048618 0.00001
NM_001360.3(DHCR7):c.-145C>G rs1398299576 0.00001
NM_001360.3(DHCR7):c.1002C>A (p.Thr334=) rs778753729 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001360.3(DHCR7):c.1083C>A (p.Phe361Leu) rs780088227 0.00001
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153 0.00001
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His) rs142213147 0.00001
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653 0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646 0.00001
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter) rs1555145605 0.00001
NM_001360.3(DHCR7):c.1152C>T (p.Ser384=) rs145084285 0.00001
NM_001360.3(DHCR7):c.1153G>A (p.Ala385Thr) rs750989470 0.00001
NM_001360.3(DHCR7):c.1203C>T (p.Gly401=) rs368867929 0.00001
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr) rs770819693 0.00001
NM_001360.3(DHCR7):c.1220A>G (p.Asn407Ser) rs746591926 0.00001
NM_001360.3(DHCR7):c.1221C>A (p.Asn407Lys) rs1481450955 0.00001
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His) rs1046560765 0.00001
NM_001360.3(DHCR7):c.1225G>A (p.Val409Ile) rs757861528 0.00001
NM_001360.3(DHCR7):c.1227C>T (p.Val409=) rs1012396683 0.00001
NM_001360.3(DHCR7):c.1251C>T (p.Ala417=) rs767043016 0.00001
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro) rs1354718634 0.00001
NM_001360.3(DHCR7):c.1284G>A (p.Leu428=) rs746928218 0.00001
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852 0.00001
NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu) rs781687341 0.00001
NM_001360.3(DHCR7):c.1338G>C (p.Arg446=) rs201716149 0.00001
NM_001360.3(DHCR7):c.1392C>T (p.Ala464=) rs368281869 0.00001
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met) rs760428437 0.00001
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095 0.00001
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser) rs1478872904 0.00001
NM_001360.3(DHCR7):c.1427A>G (p.Ter476=) rs1202619413 0.00001
NM_001360.3(DHCR7):c.151C>T (p.Pro51Ser) rs104886035 0.00001
NM_001360.3(DHCR7):c.153C>T (p.Pro51=) rs777966196 0.00001
NM_001360.3(DHCR7):c.225C>T (p.Ile75=) rs755182484 0.00001
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile) rs368473756 0.00001
NM_001360.3(DHCR7):c.232G>A (p.Gly78Arg) rs373352413 0.00001
NM_001360.3(DHCR7):c.255C>T (p.Ile85=) rs1013040669 0.00001
NM_001360.3(DHCR7):c.273T>C (p.Pro91=) rs772671149 0.00001
NM_001360.3(DHCR7):c.291C>T (p.Ala97=) rs780909138 0.00001
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter) rs104886039 0.00001
NM_001360.3(DHCR7):c.322-7G>A rs1359774813 0.00001
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro) rs121912195 0.00001
NM_001360.3(DHCR7):c.342C>A (p.Leu114=) rs773047702 0.00001
NM_001360.3(DHCR7):c.397G>A (p.Ala133Thr) rs763333510 0.00001
NM_001360.3(DHCR7):c.412+3A>T rs786200926 0.00001
NM_001360.3(DHCR7):c.412+4G>A rs776841323 0.00001
NM_001360.3(DHCR7):c.413-2A>G rs775575609 0.00001
NM_001360.3(DHCR7):c.429T>G (p.Tyr143Ter) rs1393186135 0.00001
NM_001360.3(DHCR7):c.442C>T (p.Leu148=) rs758693177 0.00001
NM_001360.3(DHCR7):c.45A>G (p.Leu15=) rs150214075 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001360.3(DHCR7):c.484G>A (p.Ala162Thr) rs767716202 0.00001
NM_001360.3(DHCR7):c.504C>T (p.Phe168=) rs1949345995 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001360.3(DHCR7):c.513C>T (p.Thr171=) rs566499249 0.00001
NM_001360.3(DHCR7):c.51C>T (p.Gly17=) rs776713087 0.00001
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser) rs769218623 0.00001
NM_001360.3(DHCR7):c.523G>A (p.Asp175Asn) rs368269558 0.00001
NM_001360.3(DHCR7):c.52G>A (p.Val18Ile) rs770947907 0.00001
NM_001360.3(DHCR7):c.579C>G (p.Thr193=) rs778664009 0.00001
NM_001360.3(DHCR7):c.616G>A (p.Ala206Thr) rs542744675 0.00001
NM_001360.3(DHCR7):c.626+1G>T rs1471145742 0.00001
NM_001360.3(DHCR7):c.627-1G>A rs1057517210 0.00001
NM_001360.3(DHCR7):c.638G>A (p.Gly213Asp) rs769583377 0.00001
NM_001360.3(DHCR7):c.651C>A (p.Tyr217Ter) rs749076525 0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782 0.00001
NM_001360.3(DHCR7):c.658A>T (p.Met220Leu) rs200659923 0.00001
NM_001360.3(DHCR7):c.669C>T (p.Ile223=) rs879926326 0.00001
NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys) rs373121544 0.00001
NM_001360.3(DHCR7):c.709C>T (p.Leu237=) rs755941916 0.00001
NM_001360.3(DHCR7):c.714C>T (p.Phe238=) rs1388550299 0.00001
NM_001360.3(DHCR7):c.727C>T (p.Pro243Ser) rs1329227520 0.00001
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg) rs777248132 0.00001
NM_001360.3(DHCR7):c.738C>T (p.Val246=) rs536834609 0.00001
NM_001360.3(DHCR7):c.756C>T (p.Asn252=) rs774666247 0.00001
NM_001360.3(DHCR7):c.771G>A (p.Ala257=) rs200232012 0.00001
NM_001360.3(DHCR7):c.783G>A (p.Glu261=) rs778674271 0.00001
NM_001360.3(DHCR7):c.823G>A (p.Val275Ile) rs775628929 0.00001
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter) rs756564881 0.00001
NM_001360.3(DHCR7):c.831+2T>A rs1057516920 0.00001
NM_001360.3(DHCR7):c.831+7G>A rs1318919210 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) rs121909765 0.00001
NM_001360.3(DHCR7):c.867C>T (p.Thr289=) rs761602799 0.00001
NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter) rs774187452 0.00001
NM_001360.3(DHCR7):c.882C>T (p.Thr294=) rs748858240 0.00001
NM_001360.3(DHCR7):c.888C>T (p.Asp296=) rs1208755285 0.00001
NM_001360.3(DHCR7):c.947A>G (p.Tyr316Cys) rs754992933 0.00001
NM_001360.3(DHCR7):c.954C>T (p.Tyr318=) rs1238806817 0.00001
NM_001360.3(DHCR7):c.956C>T (p.Thr319Met) rs766583874 0.00001
NM_001360.3(DHCR7):c.963+7A>G rs775201083 0.00001
NM_001360.3(DHCR7):c.963+9G>A rs759043350 0.00001
NM_001360.3(DHCR7):c.964-10C>T rs753345689 0.00001
NM_001360.3(DHCR7):c.964-8C>T rs760035984 0.00001
NM_001360.3(DHCR7):c.98+10T>A rs1220918028 0.00001
NM_001360.3(DHCR7):c.98+20T>A rs1017429578 0.00001
NM_001360.3(DHCR7):c.99-7C>T rs1177383343 0.00001
GRCh37/hg19 11q13.4(chr11:71155018-71156024)
NC_000011.10:g.(?_71441217)_(71441450_?)del
NC_000011.10:g.(?_71441217)_(71444962_?)del
NC_000011.10:g.(?_71443983)_(71444962_?)del
NC_000011.9:g.(?_71146411)_(71146895_?)del
NC_000011.9:g.(?_71146411)_(71152496_?)del
NC_000011.9:g.(?_71146411)_(71156008_?)del
NC_000011.9:g.(?_71146421)_(71149009_?)del
NC_000011.9:g.(?_71146674)_(71155299_?)del
NC_000011.9:g.(?_71148848)_(71148999_?)del
NC_000011.9:g.(?_71152249)_(71153318_?)del
NM_001360.3(DHCR7):c.*161_*172del rs141483210
NM_001360.3(DHCR7):c.*20G>T rs747532529
NM_001360.3(DHCR7):c.*324C>T rs759058043
NM_001360.3(DHCR7):c.*438G>A rs886048615
NM_001360.3(DHCR7):c.*63G>T rs918545080
NM_001360.3(DHCR7):c.*681T>C rs886048613
NM_001360.3(DHCR7):c.*723C>A rs1024548576
NM_001360.3(DHCR7):c.-192C>T rs886048619
NM_001360.3(DHCR7):c.-209G>A rs886048620
NM_001360.3(DHCR7):c.-225C>G rs4944946
NM_001360.3(DHCR7):c.-225C>T rs4944946
NM_001360.3(DHCR7):c.1001C>T (p.Thr334Ile)
NM_001360.3(DHCR7):c.1004C>T (p.Pro335Leu)
NM_001360.3(DHCR7):c.1004del (p.Pro335fs) rs1555145646
NM_001360.3(DHCR7):c.1005G>C (p.Pro335=) rs768765843
NM_001360.3(DHCR7):c.1010_1018del (p.Ala337_Gly339del) rs1555145633
NM_001360.3(DHCR7):c.1011C>G (p.Ala337=) rs369382960
NM_001360.3(DHCR7):c.1012del (p.Val338fs)
NM_001360.3(DHCR7):c.1017C>G (p.Gly339=)
NM_001360.3(DHCR7):c.1020C>T (p.Val340=) rs763165078
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro) rs1317526744
NM_001360.3(DHCR7):c.1025T>C (p.Leu342Pro) rs199957106
NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp) rs1409887214
NM_001360.3(DHCR7):c.1031del (p.Gly344fs)
NM_001360.3(DHCR7):c.1035G>C (p.Leu345=)
NM_001360.3(DHCR7):c.1039G>A (p.Gly347Ser)
NM_001360.3(DHCR7):c.1040G>T (p.Gly347Val)
NM_001360.3(DHCR7):c.1041C>T (p.Gly347=)
NM_001360.3(DHCR7):c.1047C>T (p.Tyr349=)
NM_001360.3(DHCR7):c.1048A>G (p.Ile350Val) rs1949272319
NM_001360.3(DHCR7):c.1050C>T (p.Ile350=)
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.3(DHCR7):c.1056G>A (p.Arg352=)
NM_001360.3(DHCR7):c.1056G>T (p.Arg352=) rs1214267485
NM_001360.3(DHCR7):c.1057del (p.Val353fs) rs759720450
NM_001360.3(DHCR7):c.105G>A (p.Val35=)
NM_001360.3(DHCR7):c.105G>T (p.Val35=)
NM_001360.3(DHCR7):c.1062C>G (p.Ala354=)
NM_001360.3(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.3(DHCR7):c.106G>A (p.Asp36Asn) rs2120355049
NM_001360.3(DHCR7):c.1077C>T (p.Asp359=) rs1346912055
NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro) rs1555145619
NM_001360.3(DHCR7):c.1080_1081del (p.Phe361fs) rs1057516517
NM_001360.3(DHCR7):c.1083C>G (p.Phe361Leu) rs780088227
NM_001360.3(DHCR7):c.1084C>G (p.Arg362Gly) rs371302153
NM_001360.3(DHCR7):c.1086C>T (p.Arg362=) rs1459497627
NM_001360.3(DHCR7):c.1089C>T (p.Arg363=)
NM_001360.3(DHCR7):c.108C>T (p.Asp36=)
NM_001360.3(DHCR7):c.1097G>T (p.Gly366Val) rs1555145614
NM_001360.3(DHCR7):c.1098G>A (p.Gly366=) rs2135939894
NM_001360.3(DHCR7):c.1107C>T (p.Leu369=)
NM_001360.3(DHCR7):c.110G>A (p.Trp37Ter)
NM_001360.3(DHCR7):c.1110C>T (p.Ile370=) rs2135939865
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter) rs1591107421
NM_001360.3(DHCR7):c.1113G>A (p.Trp371Ter)
NM_001360.3(DHCR7):c.1131C>A (p.Val377=) rs2135939836
NM_001360.3(DHCR7):c.1137G>A (p.Glu379=)
NM_001360.3(DHCR7):c.1141T>C (p.Ser381Pro)
NM_001360.3(DHCR7):c.1146C>T (p.Tyr382=) rs1555145605
NM_001360.3(DHCR7):c.1156G>C (p.Asp386His)
NM_001360.3(DHCR7):c.1161G>A (p.Gly387=)
NM_001360.3(DHCR7):c.1161G>T (p.Gly387=)
NM_001360.3(DHCR7):c.1167G>A (p.Arg389=) rs1258190343
NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr) rs544442568
NM_001360.3(DHCR7):c.116C>G (p.Ser39Ter) rs1467346010
NM_001360.3(DHCR7):c.1170C>T (p.His390=) rs2135939762
NM_001360.3(DHCR7):c.1172A>C (p.His391Pro)
NM_001360.3(DHCR7):c.1173C>T (p.His391=) rs2135939758
NM_001360.3(DHCR7):c.1176C>T (p.Ser392=)
NM_001360.3(DHCR7):c.117A>C (p.Ser39=) rs1464844855
NM_001360.3(DHCR7):c.1182G>A (p.Leu394=) rs2135939745
NM_001360.3(DHCR7):c.1188G>A (p.Val396=) rs1468084166
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360.3(DHCR7):c.1191G>A (p.Ser397=) rs767847651
NM_001360.3(DHCR7):c.1191G>C (p.Ser397=) rs767847651
NM_001360.3(DHCR7):c.1194C>T (p.Gly398=)
NM_001360.3(DHCR7):c.1199G>A (p.Trp400Ter) rs1057516493
NM_001360.3(DHCR7):c.1204G>A (p.Val402Met)
NM_001360.3(DHCR7):c.1209C>T (p.Ala403=) rs1321822921
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser) rs61757582
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly) rs61757582
NM_001360.3(DHCR7):c.1210del (p.Arg404fs)
NM_001360.3(DHCR7):c.1211G>A (p.Arg404His) rs1949268223
NM_001360.3(DHCR7):c.1212C>T (p.Arg404=)
NM_001360.3(DHCR7):c.1214del (p.His405fs)
NM_001360.3(DHCR7):c.1215C>G (p.His405Gln)
NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu) rs1949268068
NM_001360.3(DHCR7):c.121G>C (p.Ala41Pro)
NM_001360.3(DHCR7):c.1223A>T (p.Tyr408Phe) rs1219026826
NM_001360.3(DHCR7):c.1224C>G (p.Tyr408Ter)
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg) rs80338862
NM_001360.3(DHCR7):c.1230C>T (p.Gly410=)
NM_001360.3(DHCR7):c.1234C>T (p.Leu412=) rs1591107212
NM_001360.3(DHCR7):c.1236G>C (p.Leu412=)
NM_001360.3(DHCR7):c.123G>T (p.Ala41=)
NM_001360.3(DHCR7):c.1242C>T (p.Gly414=) rs2135939651
NM_001360.3(DHCR7):c.1254C>T (p.Tyr418=) rs1949267339
NM_001360.3(DHCR7):c.1260G>A (p.Leu420=)
NM_001360.3(DHCR7):c.1269C>A (p.Gly423=) rs145374203
NM_001360.3(DHCR7):c.1270G>A (p.Gly424Ser) rs368150818
NM_001360.3(DHCR7):c.1270G>T (p.Gly424Cys)
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser) rs760242
NM_001360.3(DHCR7):c.1278C>T (p.His426=) rs770971876
NM_001360.3(DHCR7):c.1284G>C (p.Leu428=)
NM_001360.3(DHCR7):c.1287C>T (p.Pro429=) rs2135939588
NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter) rs140791666
NM_001360.3(DHCR7):c.1290C>T (p.Tyr430=) rs140791666
NM_001360.3(DHCR7):c.1293_1307del (p.Phe431_Met436delinsLeu)
NM_001360.3(DHCR7):c.1294T>C (p.Tyr432His) rs747656720
NM_001360.3(DHCR7):c.1295A>G (p.Tyr432Cys) rs1565584679
NM_001360.3(DHCR7):c.1295A>T (p.Tyr432Phe) rs1565584679
NM_001360.3(DHCR7):c.1297A>G (p.Ile433Val) rs1244124212
NM_001360.3(DHCR7):c.1299C>T (p.Ile433=) rs1385048868
NM_001360.3(DHCR7):c.129C>T (p.Val43=)
NM_001360.3(DHCR7):c.12A>G (p.Lys4=) rs757934834
NM_001360.3(DHCR7):c.1305C>T (p.Tyr435=)
NM_001360.3(DHCR7):c.1314C>T (p.Ile438=) rs778750039
NM_001360.3(DHCR7):c.1315C>T (p.Leu439=) rs2135939551
NM_001360.3(DHCR7):c.1318C>T (p.Leu440=) rs1381722107
NM_001360.3(DHCR7):c.1321A>G (p.Thr441Ala) rs749728888
NM_001360.3(DHCR7):c.1323C>T (p.Thr441=)
NM_001360.3(DHCR7):c.1324C>G (p.His442Asp) rs2135939533
NM_001360.3(DHCR7):c.1325A>G (p.His442Arg) rs1949265616
NM_001360.3(DHCR7):c.1326C>T (p.His442=)
NM_001360.3(DHCR7):c.1327C>G (p.Arg443Gly)
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001360.3(DHCR7):c.1328G>C (p.Arg443Pro) rs781687341
NM_001360.3(DHCR7):c.1334_1336dup (p.Leu445dup) rs766416330
NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro) rs751604696
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln) rs80338864
NM_001360.3(DHCR7):c.1342_1344delinsC (p.Glu448fs) rs1591107062
NM_001360.3(DHCR7):c.1347C>T (p.His449=) rs963669095
NM_001360.3(DHCR7):c.1348C>T (p.Arg450Cys)
NM_001360.3(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu) rs1591107040
NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)
NM_001360.3(DHCR7):c.1352G>T (p.Cys451Phe)
NM_001360.3(DHCR7):c.1356C>T (p.Ala452=)
NM_001360.3(DHCR7):c.1359C>T (p.Ser453=)
NM_001360.3(DHCR7):c.1360A>T (p.Lys454Ter) rs2135939478
NM_001360.3(DHCR7):c.1364A>T (p.Tyr455Phe) rs1949264089
NM_001360.3(DHCR7):c.1365C>A (p.Tyr455Ter)
NM_001360.3(DHCR7):c.1373A>G (p.Asp458Gly)
NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter) rs1555145550
NM_001360.3(DHCR7):c.1379A>G (p.Glu460Gly)
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His) rs201270451
NM_001360.3(DHCR7):c.1385A>G (p.Tyr462Cys)
NM_001360.3(DHCR7):c.1386C>A (p.Tyr462Ter) rs1453500228
NM_001360.3(DHCR7):c.1386C>T (p.Tyr462=)
NM_001360.3(DHCR7):c.138A>G (p.Leu46=)
NM_001360.3(DHCR7):c.138A>T (p.Leu46=) rs2120355030
NM_001360.3(DHCR7):c.1393G>T (p.Ala465Ser)
NM_001360.3(DHCR7):c.1395A>T (p.Ala465=)
NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala)
NM_001360.3(DHCR7):c.1398G>A (p.Val466=) rs2135939416
NM_001360.3(DHCR7):c.1399C>T (p.Pro467Ser)
NM_001360.3(DHCR7):c.1404C>G (p.Tyr468Ter)
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.3(DHCR7):c.1407C>T (p.Arg469=)
NM_001360.3(DHCR7):c.1408C>T (p.Leu470=) rs1323783706
NM_001360.3(DHCR7):c.1413G>A (p.Leu471=) rs1466027170
NM_001360.3(DHCR7):c.1416T>A (p.Pro472=)
NM_001360.3(DHCR7):c.1416T>G (p.Pro472=) rs2135939380
NM_001360.3(DHCR7):c.1419A>T (p.Gly473=)
NM_001360.3(DHCR7):c.1426T>A (p.Ter476Lys) rs775034584
NM_001360.3(DHCR7):c.148G>A (p.Ala50Thr)
NM_001360.3(DHCR7):c.14C>G (p.Ser5Trp)
NM_001360.3(DHCR7):c.14C>T (p.Ser5Leu) rs1127869
NM_001360.3(DHCR7):c.150C>T (p.Ala50=) rs540098203
NM_001360.3(DHCR7):c.152C>T (p.Pro51Leu)
NM_001360.3(DHCR7):c.155_157delinsCCAT (p.Phe52fs)
NM_001360.3(DHCR7):c.162C>T (p.Val54=) rs755869989
NM_001360.3(DHCR7):c.165C>T (p.Tyr55=) rs374941029
NM_001360.3(DHCR7):c.16C>T (p.Gln6Ter) rs1057516977
NM_001360.3(DHCR7):c.174C>T (p.Ile58=)
NM_001360.3(DHCR7):c.177_178delinsT (p.Met59fs)
NM_001360.3(DHCR7):c.186C>T (p.Asp62=)
NM_001360.3(DHCR7):c.187C>T (p.Gln63Ter)
NM_001360.3(DHCR7):c.187del (p.Gln63fs)
NM_001360.3(DHCR7):c.18A>G (p.Gln6=)
NM_001360.3(DHCR7):c.192C>T (p.Tyr64=)
NM_001360.3(DHCR7):c.197G>A (p.Cys66Tyr) rs2120355008
NM_001360.3(DHCR7):c.199del (p.Ala67fs)
NM_001360.3(DHCR7):c.1A>C (p.Met1Leu) rs104886033
NM_001360.3(DHCR7):c.201C>T (p.Ala67=)
NM_001360.3(DHCR7):c.207_208delinsCC (p.Gly70Arg) rs2120355002
NM_001360.3(DHCR7):c.207_208inv (p.Gly70Ser)
NM_001360.3(DHCR7):c.210C>T (p.Gly70=) rs747544280
NM_001360.3(DHCR7):c.213T>C (p.Pro71=) rs1418528138
NM_001360.3(DHCR7):c.21C>A (p.Pro7=)
NM_001360.3(DHCR7):c.21C>G (p.Pro7=) rs766817989
NM_001360.3(DHCR7):c.21C>T (p.Pro7=) rs766817989
NM_001360.3(DHCR7):c.220G>A (p.Asp74Asn)
NM_001360.3(DHCR7):c.228C>T (p.Val76=) rs2135947126
NM_001360.3(DHCR7):c.230C>T (p.Thr77Ile)
NM_001360.3(DHCR7):c.231C>G (p.Thr77=) rs4316537
NM_001360.3(DHCR7):c.237T>C (p.His79=) rs1316013264
NM_001360.3(DHCR7):c.239C>T (p.Ala80Val) rs1949376985
NM_001360.3(DHCR7):c.246C>G (p.Leu82=) rs2135947085
NM_001360.3(DHCR7):c.248C>A (p.Ser83Ter)
NM_001360.3(DHCR7):c.249G>A (p.Ser83=)
NM_001360.3(DHCR7):c.266del (p.Thr89fs)
NM_001360.3(DHCR7):c.267T>C (p.Thr89=)
NM_001360.3(DHCR7):c.270A>G (p.Pro90=)
NM_001360.3(DHCR7):c.273T>A (p.Pro91=) rs772671149
NM_001360.3(DHCR7):c.278C>A (p.Thr93Lys)
NM_001360.3(DHCR7):c.282G>A (p.Arg94=) rs541593878
NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro) rs104886041
NM_001360.3(DHCR7):c.297C>T (p.Leu99=)
NM_001360.3(DHCR7):c.299A>G (p.Tyr100Cys)
NM_001360.3(DHCR7):c.300T>A (p.Tyr100Ter) rs1949375897
NM_001360.3(DHCR7):c.304T>C (p.Leu102=) rs1591113264
NM_001360.3(DHCR7):c.305T>A (p.Leu102Ter)
NM_001360.3(DHCR7):c.30C>G (p.Pro10=) rs775421040
NM_001360.3(DHCR7):c.315C>T (p.Thr105=)
NM_001360.3(DHCR7):c.321+11C>T
NM_001360.3(DHCR7):c.321+15C>T
NM_001360.3(DHCR7):c.321+19G>A
NM_001360.3(DHCR7):c.321+219C>T rs12422045
NM_001360.3(DHCR7):c.321+8G>T rs2135946938
NM_001360.3(DHCR7):c.321+8del rs2135946943
NM_001360.3(DHCR7):c.321+9C>T rs1591113228
NM_001360.3(DHCR7):c.322-15G>A
NM_001360.3(DHCR7):c.322-17C>A
NM_001360.3(DHCR7):c.322-18G>T
NM_001360.3(DHCR7):c.322-1G>A rs1565588719
NM_001360.3(DHCR7):c.322-1G>C rs1565588719
NM_001360.3(DHCR7):c.322-1_334del
NM_001360.3(DHCR7):c.322-2A>G rs1555146618
NM_001360.3(DHCR7):c.322-9G>A rs2135945639
NM_001360.3(DHCR7):c.327T>C (p.Leu109=)
NM_001360.3(DHCR7):c.330G>A (p.Leu110=)
NM_001360.3(DHCR7):c.330G>C (p.Leu110=) rs2135945611
NM_001360.3(DHCR7):c.33A>G (p.Lys11=)
NM_001360.3(DHCR7):c.348C>T (p.Asp116=) rs373808237
NM_001360.3(DHCR7):c.353G>A (p.Cys118Tyr)
NM_001360.3(DHCR7):c.354C>T (p.Cys118=) rs1377670887
NM_001360.3(DHCR7):c.355del (p.His119fs) rs747827699
NM_001360.3(DHCR7):c.356A>G (p.His119Arg) rs28938174
NM_001360.3(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001360.3(DHCR7):c.360G>A (p.Lys120=)
NM_001360.3(DHCR7):c.369C>A (p.Pro123=)
NM_001360.3(DHCR7):c.369C>G (p.Pro123=) rs373452254
NM_001360.3(DHCR7):c.369C>T (p.Pro123=) rs373452254
NM_001360.3(DHCR7):c.36C>T (p.Ala12=) rs2120355292
NM_001360.3(DHCR7):c.373T>C (p.Tyr125His)
NM_001360.3(DHCR7):c.374A>G (p.Tyr125Cys) rs2135945513
NM_001360.3(DHCR7):c.375C>A (p.Tyr125Ter)
NM_001360.3(DHCR7):c.375C>G (p.Tyr125Ter)
NM_001360.3(DHCR7):c.378A>G (p.Val126=)
NM_001360.3(DHCR7):c.37A>G (p.Lys13Glu)
NM_001360.3(DHCR7):c.381A>G (p.Gly127=)
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter) rs1949357136
NM_001360.3(DHCR7):c.393G>A (p.Glu131=) rs2135945482
NM_001360.3(DHCR7):c.401_402del (p.Val134fs)
NM_001360.3(DHCR7):c.412+10T>G rs2135945434
NM_001360.3(DHCR7):c.412+16C>T
NM_001360.3(DHCR7):c.412+17C>T
NM_001360.3(DHCR7):c.412+19C>T
NM_001360.3(DHCR7):c.412+20C>G
NM_001360.3(DHCR7):c.412+2T>C
NM_001360.3(DHCR7):c.412+3A>G rs786200926
NM_001360.3(DHCR7):c.412+8C>T
NM_001360.3(DHCR7):c.412+9C>T rs2135945436
NM_001360.3(DHCR7):c.413-12C>T
NM_001360.3(DHCR7):c.413-17G>C
NM_001360.3(DHCR7):c.413-18T>C
NM_001360.3(DHCR7):c.413-19C>T
NM_001360.3(DHCR7):c.413-1G>A rs1057517307
NM_001360.3(DHCR7):c.413-6C>A
NM_001360.3(DHCR7):c.413-8A>G
NM_001360.3(DHCR7):c.413-8A>T
NM_001360.3(DHCR7):c.415G>C (p.Val139Leu)
NM_001360.3(DHCR7):c.42T>C (p.Ser14=) rs2120355286
NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu) rs1555146475
NM_001360.3(DHCR7):c.435C>A (p.Ile145=)
NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys) rs949177
NM_001360.3(DHCR7):c.438_439inv (p.Gly147Ser)
NM_001360.3(DHCR7):c.44T>C (p.Leu15Pro) rs1949390350
NM_001360.3(DHCR7):c.450C>A (p.Ala150=)
NM_001360.3(DHCR7):c.453G>A (p.Trp151Ter) rs104894213
NM_001360.3(DHCR7):c.454C>T (p.Leu152Phe) rs1949346801
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.3(DHCR7):c.462G>A (p.Thr154=) rs1203189676
NM_001360.3(DHCR7):c.462G>T (p.Thr154=) rs1203189676
NM_001360.3(DHCR7):c.465C>T (p.His155=) rs1949346657
NM_001360.3(DHCR7):c.471C>G (p.Leu157=)
NM_001360.3(DHCR7):c.473G>A (p.Trp158Ter)
NM_001360.3(DHCR7):c.474G>A (p.Trp158Ter)
NM_001360.3(DHCR7):c.475T>C (p.Phe159Leu)
NM_001360.3(DHCR7):c.480A>G (p.Ala160=) rs2135944718
NM_001360.3(DHCR7):c.486T>C (p.Ala162=)
NM_001360.3(DHCR7):c.486T>G (p.Ala162=)
NM_001360.3(DHCR7):c.488A>G (p.His163Arg)
NM_001360.3(DHCR7):c.48_78del (p.Asp16fs)
NM_001360.3(DHCR7):c.492C>G (p.Leu164=) rs759538408
NM_001360.3(DHCR7):c.492C>T (p.Leu164=) rs759538408
NM_001360.3(DHCR7):c.495_496del (p.Ser166fs)
NM_001360.3(DHCR7):c.496T>G (p.Ser166Ala)
NM_001360.3(DHCR7):c.501G>A (p.Trp167Ter) rs1427321619
NM_001360.3(DHCR7):c.507G>T (p.Ser169=)
NM_001360.3(DHCR7):c.532A>T (p.Ile178Phe) rs1223603615
NM_001360.3(DHCR7):c.533T>A (p.Ile178Asn)
NM_001360.3(DHCR7):c.534C>T (p.Ile178=) rs1349721227
NM_001360.3(DHCR7):c.536C>T (p.Pro179Leu) rs1555146436
NM_001360.3(DHCR7):c.537A>G (p.Pro179=)
NM_001360.3(DHCR7):c.543GTG[1] (p.Trp182del)
NM_001360.3(DHCR7):c.546G>C (p.Trp182Cys)
NM_001360.3(DHCR7):c.546G>T (p.Trp182Cys)
NM_001360.3(DHCR7):c.548G>A (p.Cys183Tyr) rs2135944619
NM_001360.3(DHCR7):c.550G>A (p.Ala184Thr)
NM_001360.3(DHCR7):c.552C>T (p.Ala184=)
NM_001360.3(DHCR7):c.555C>T (p.Asn185=)
NM_001360.3(DHCR7):c.560T>C (p.Leu187Pro) rs1565587998
NM_001360.3(DHCR7):c.567T>A (p.Tyr189Ter)
NM_001360.3(DHCR7):c.570C>G (p.Ala190=) rs74909468
NM_001360.3(DHCR7):c.573C>G (p.Val191=) rs2135944579
NM_001360.3(DHCR7):c.573C>T (p.Val191=)
NM_001360.3(DHCR7):c.575C>T (p.Ser192Phe) rs766299724
NM_001360.3(DHCR7):c.576C>T (p.Ser192=) rs760123718
NM_001360.3(DHCR7):c.578C>G (p.Thr193Ser)
NM_001360.3(DHCR7):c.585C>T (p.Ala195=) rs2135944558
NM_001360.3(DHCR7):c.600C>G (p.Tyr200Ter) rs2135944550
NM_001360.3(DHCR7):c.606C>T (p.Phe202=) rs1591111340
NM_001360.3(DHCR7):c.609C>T (p.Pro203=)
NM_001360.3(DHCR7):c.612C>T (p.Thr204=)
NM_001360.3(DHCR7):c.624C>T (p.Asp208=)
NM_001360.3(DHCR7):c.626+1013G>A
NM_001360.3(DHCR7):c.626+14A>T
NM_001360.3(DHCR7):c.626+16C>A
NM_001360.3(DHCR7):c.626+16C>T
NM_001360.3(DHCR7):c.626+17G>A
NM_001360.3(DHCR7):c.626+18G>T
NM_001360.3(DHCR7):c.626+19G>T
NM_001360.3(DHCR7):c.626+1G>C rs1471145742
NM_001360.3(DHCR7):c.626+2del
NM_001360.3(DHCR7):c.626+2dup rs1591111319
NM_001360.3(DHCR7):c.626+3A>G
NM_001360.3(DHCR7):c.626+7T>A rs1949344052
NM_001360.3(DHCR7):c.626+8C>T
NM_001360.3(DHCR7):c.627-14T>C
NM_001360.3(DHCR7):c.627-15A>G
NM_001360.3(DHCR7):c.627-17T>A
NM_001360.3(DHCR7):c.627-17T>G
NM_001360.3(DHCR7):c.627-20C>G
NM_001360.3(DHCR7):c.627-4T>A rs1300133134
NM_001360.3(DHCR7):c.627-9A>G rs2135942933
NM_001360.3(DHCR7):c.627C>A (p.Cys209Ter) rs1949322246
NM_001360.3(DHCR7):c.630del (p.Lys210fs)
NM_001360.3(DHCR7):c.634A>G (p.Thr212Ala) rs976105626
NM_001360.3(DHCR7):c.634del (p.Thr212fs) rs1565586916
NM_001360.3(DHCR7):c.636A>G (p.Thr212=)
NM_001360.3(DHCR7):c.636A>T (p.Thr212=)
NM_001360.3(DHCR7):c.644_659del (p.Asn214_Phe215insTer) rs2135942891
NM_001360.3(DHCR7):c.646T>G (p.Phe216Val)
NM_001360.3(DHCR7):c.651C>G (p.Tyr217Ter)
NM_001360.3(DHCR7):c.654C>A (p.Asn218Lys) rs1949321790
NM_001360.3(DHCR7):c.657C>T (p.Tyr219=)
NM_001360.3(DHCR7):c.658A>G (p.Met220Val)
NM_001360.3(DHCR7):c.660G>C (p.Met220Ile) rs767377692
NM_001360.3(DHCR7):c.660G>T (p.Met220Ile)
NM_001360.3(DHCR7):c.661A>G (p.Met221Val)
NM_001360.3(DHCR7):c.662T>G (p.Met221Arg) rs943223142
NM_001360.3(DHCR7):c.676A>G (p.Asn226Asp)
NM_001360.3(DHCR7):c.680dup (p.Arg228fs)
NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln)
NM_001360.3(DHCR7):c.687C>G (p.Ile229Met) rs267603172
NM_001360.3(DHCR7):c.687C>T (p.Ile229=) rs267603172
NM_001360.3(DHCR7):c.694T>C (p.Trp232Arg)
NM_001360.3(DHCR7):c.695_701dup (p.Asp234delinsGluValTer)
NM_001360.3(DHCR7):c.696G>A (p.Trp232Ter) rs1591109892
NM_001360.3(DHCR7):c.704T>C (p.Phe235Ser) rs1555146061
NM_001360.3(DHCR7):c.708G>A (p.Lys236=)
NM_001360.3(DHCR7):c.70G>A (p.Ala24Thr) rs146867923
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.3(DHCR7):c.711G>A (p.Leu237=)
NM_001360.3(DHCR7):c.711G>T (p.Leu237=)
NM_001360.3(DHCR7):c.717C>T (p.Phe239=)
NM_001360.3(DHCR7):c.720_735del (p.Asn240fs)
NM_001360.3(DHCR7):c.725G>C (p.Arg242Pro)
NM_001360.3(DHCR7):c.725G>T (p.Arg242Leu)
NM_001360.3(DHCR7):c.726C>T (p.Arg242=) rs1289838516
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.3(DHCR7):c.735C>A (p.Ile245=) rs12800
NM_001360.3(DHCR7):c.739G>A (p.Ala247Thr) rs767031102
NM_001360.3(DHCR7):c.739G>T (p.Ala247Ser) rs767031102
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.3(DHCR7):c.742T>C (p.Trp248Arg) rs886044494
NM_001360.3(DHCR7):c.744G>A (p.Trp248Ter) rs104894212
NM_001360.3(DHCR7):c.744G>T (p.Trp248Cys) rs104894212
NM_001360.3(DHCR7):c.747C>G (p.Thr249=) rs2135942748
NM_001360.3(DHCR7):c.748del (p.Leu250fs)
NM_001360.3(DHCR7):c.750C>G (p.Leu250=) rs2135942744
NM_001360.3(DHCR7):c.753C>T (p.Ile251=) rs1949319705
NM_001360.3(DHCR7):c.757C>T (p.Leu253=)
NM_001360.3(DHCR7):c.761_762insT (p.Phe255fs)
NM_001360.3(DHCR7):c.762C>T (p.Ser254=)
NM_001360.3(DHCR7):c.766G>T (p.Ala256Ser) rs772639348
NM_001360.3(DHCR7):c.768A>G (p.Ala256=)
NM_001360.3(DHCR7):c.76C>T (p.Gln26Ter)
NM_001360.3(DHCR7):c.770C>G (p.Ala257Gly)
NM_001360.3(DHCR7):c.774G>A (p.Lys258=)
NM_001360.3(DHCR7):c.778C>A (p.Arg260=) rs777617141
NM_001360.3(DHCR7):c.779G>A (p.Arg260Gln)
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly) rs1406131499
NM_001360.3(DHCR7):c.789C>T (p.His263=) rs754320411
NM_001360.3(DHCR7):c.791G>A (p.Ser264Asn)
NM_001360.3(DHCR7):c.803del (p.Asn268fs) rs1555146023
NM_001360.3(DHCR7):c.804T>C (p.Asn268=)
NM_001360.3(DHCR7):c.804del (p.Asn268fs) rs1057516783
NM_001360.3(DHCR7):c.807C>A (p.Ala269=)
NM_001360.3(DHCR7):c.808A>G (p.Met270Val) rs1555146021
NM_001360.3(DHCR7):c.814C>T (p.Leu272=)
NM_001360.3(DHCR7):c.816G>T (p.Leu272=)
NM_001360.3(DHCR7):c.817G>A (p.Val273Ile)
NM_001360.3(DHCR7):c.818T>G (p.Val273Gly)
NM_001360.3(DHCR7):c.820_825del (p.Asn274_Val275del) rs757697462
NM_001360.3(DHCR7):c.821A>C (p.Asn274Thr) rs774275482
NM_001360.3(DHCR7):c.822C>A (p.Asn274Lys) rs139787408
NM_001360.3(DHCR7):c.825C>T (p.Val275=)
NM_001360.3(DHCR7):c.831+13G>A
NM_001360.3(DHCR7):c.831+14C>T
NM_001360.3(DHCR7):c.831+15T>C
NM_001360.3(DHCR7):c.832-14C>T
NM_001360.3(DHCR7):c.832-15G>A
NM_001360.3(DHCR7):c.832-17C>A
NM_001360.3(DHCR7):c.832-19G>A
NM_001360.3(DHCR7):c.832-1G>C rs80338863
NM_001360.3(DHCR7):c.832-20C>T
NM_001360.3(DHCR7):c.832-4G>A rs757845039
NM_001360.3(DHCR7):c.832-4G>T rs757845039
NM_001360.3(DHCR7):c.832-7C>G rs781410864
NM_001360.3(DHCR7):c.832-7C>T
NM_001360.3(DHCR7):c.832-9G>A rs2135941963
NM_001360.3(DHCR7):c.835A>G (p.Ile279Val)
NM_001360.3(DHCR7):c.837C>T (p.Ile279=) rs1949304955
NM_001360.3(DHCR7):c.838T>G (p.Tyr280Asp)
NM_001360.3(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
NM_001360.3(DHCR7):c.849C>T (p.Asp283=)
NM_001360.3(DHCR7):c.851TCT[1] (p.Phe285del)
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu) rs184297154
NM_001360.3(DHCR7):c.858G>A (p.Trp286Ter) rs1555145877
NM_001360.3(DHCR7):c.861C>A (p.Asn287Lys) rs766495775
NM_001360.3(DHCR7):c.861C>T (p.Asn287=) rs766495775
NM_001360.3(DHCR7):c.862G>T (p.Glu288Ter)
NM_001360.3(DHCR7):c.874C>T (p.Leu292=)
NM_001360.3(DHCR7):c.874del (p.Tyr291_Leu292insTer) rs1555145874
NM_001360.3(DHCR7):c.876G>A (p.Leu292=)
NM_001360.3(DHCR7):c.877A>T (p.Lys293Ter)
NM_001360.3(DHCR7):c.879G>A (p.Lys293=) rs1001301126
NM_001360.3(DHCR7):c.882C>A (p.Thr294=) rs748858240
NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser)
NM_001360.3(DHCR7):c.891C>T (p.Ile297=) rs2135941843
NM_001360.3(DHCR7):c.894C>A (p.Cys298Ter) rs769639753
NM_001360.3(DHCR7):c.89G>A (p.Gly30Asp)
NM_001360.3(DHCR7):c.89del (p.Gly30fs) rs1949389544
NM_001360.3(DHCR7):c.901C>A (p.His301Asn)
NM_001360.3(DHCR7):c.902A>G (p.His301Arg) rs1565586067
NM_001360.3(DHCR7):c.903C>T (p.His301=) rs1949302945
NM_001360.3(DHCR7):c.904T>G (p.Phe302Val)
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.3(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360.3(DHCR7):c.907G>C (p.Gly303Arg)
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp) rs142808899
NM_001360.3(DHCR7):c.908G>A (p.Gly303Glu)
NM_001360.3(DHCR7):c.909G>T (p.Gly303=) rs2135941816
NM_001360.3(DHCR7):c.90C>A (p.Gly30=) rs2120355252
NM_001360.3(DHCR7):c.90C>T (p.Gly30=) rs2120355252
NM_001360.3(DHCR7):c.911G>A (p.Trp304Ter)
NM_001360.3(DHCR7):c.915C>G (p.Tyr305Ter) rs1555145867
NM_001360.3(DHCR7):c.915C>T (p.Tyr305=) rs1555145867
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360.3(DHCR7):c.925G>A (p.Gly309Ser) rs2135941811
NM_001360.3(DHCR7):c.926G>A (p.Gly309Asp)
NM_001360.3(DHCR7):c.927C>T (p.Gly309=)
NM_001360.3(DHCR7):c.928G>A (p.Asp310Asn)
NM_001360.3(DHCR7):c.930C>T (p.Asp310=)
NM_001360.3(DHCR7):c.934_935del (p.Val312fs) rs1469918162
NM_001360.3(DHCR7):c.936C>G (p.Val312=)
NM_001360.3(DHCR7):c.939G>A (p.Trp313Ter) rs1555145862
NM_001360.3(DHCR7):c.939G>C (p.Trp313Cys) rs1555145862
NM_001360.3(DHCR7):c.942G>A (p.Leu314=)
NM_001360.3(DHCR7):c.944C>T (p.Pro315Leu) rs1949301977
NM_001360.3(DHCR7):c.949del (p.Leu317fs) rs2135941775
NM_001360.3(DHCR7):c.952T>A (p.Tyr318Asn) rs1177326550
NM_001360.3(DHCR7):c.952T>C (p.Tyr318His)
NM_001360.3(DHCR7):c.952del (p.Tyr318fs) rs1555145859
NM_001360.3(DHCR7):c.953A>G (p.Tyr318Cys) rs1457166572
NM_001360.3(DHCR7):c.955A>G (p.Thr319Ala) rs1362583959
NM_001360.3(DHCR7):c.957G>T (p.Thr319=) rs200157761
NM_001360.3(DHCR7):c.958C>T (p.Leu320=) rs2135941747
NM_001360.3(DHCR7):c.959T>C (p.Leu320Pro) rs1949301409
NM_001360.3(DHCR7):c.960G>T (p.Leu320=) rs2135941742
NM_001360.3(DHCR7):c.963+14C>A
NM_001360.3(DHCR7):c.963+16G>T
NM_001360.3(DHCR7):c.963+19C>T
NM_001360.3(DHCR7):c.963+1G>A
NM_001360.3(DHCR7):c.963+1G>T rs1057516973
NM_001360.3(DHCR7):c.963+2T>G rs1057517070
NM_001360.3(DHCR7):c.963+9G>T rs759043350
NM_001360.3(DHCR7):c.964-12C>G
NM_001360.3(DHCR7):c.964-13C>G
NM_001360.3(DHCR7):c.964-14C>G
NM_001360.3(DHCR7):c.964-15C>G
NM_001360.3(DHCR7):c.964-16C>G
NM_001360.3(DHCR7):c.964-16C>T
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167
NM_001360.3(DHCR7):c.964-23_964-20dup
NM_001360.3(DHCR7):c.964-2A>C
NM_001360.3(DHCR7):c.964-5C>G
NM_001360.3(DHCR7):c.964-7C>A
NM_001360.3(DHCR7):c.964-7C>G
NM_001360.3(DHCR7):c.964-7C>T
NM_001360.3(DHCR7):c.964-8dup rs1305056733
NM_001360.3(DHCR7):c.969_970del (p.Tyr324fs) rs2135940147
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360.3(DHCR7):c.977T>G (p.Val326Gly) rs1333822866
NM_001360.3(DHCR7):c.978G>A (p.Val326=)
NM_001360.3(DHCR7):c.98+12G>T
NM_001360.3(DHCR7):c.98+16G>A
NM_001360.3(DHCR7):c.98+19C>T
NM_001360.3(DHCR7):c.98+1G>T
NM_001360.3(DHCR7):c.98+2_98+6del rs1301873688
NM_001360.3(DHCR7):c.98+7A>C
NM_001360.3(DHCR7):c.98+9C>T rs2120355238
NM_001360.3(DHCR7):c.981C>A (p.Tyr327Ter) rs1057516375
NM_001360.3(DHCR7):c.986C>T (p.Pro329Leu)
NM_001360.3(DHCR7):c.987C>A (p.Pro329=)
NM_001360.3(DHCR7):c.987C>G (p.Pro329=) rs145901607
NM_001360.3(DHCR7):c.99-11C>G
NM_001360.3(DHCR7):c.99-12C>T
NM_001360.3(DHCR7):c.99-14A>T
NM_001360.3(DHCR7):c.99-17T>C
NM_001360.3(DHCR7):c.99-19C>A
NM_001360.3(DHCR7):c.99-1G>C rs1451108193
NM_001360.3(DHCR7):c.99-20G>A
NM_001360.3(DHCR7):c.99-4G>T
NM_001360.3(DHCR7):c.99-8C>T
NM_001360.3(DHCR7):c.990G>A (p.Val330=) rs2135940099
NM_001360.3(DHCR7):c.991C>T (p.Gln331Ter) rs1057516610
NM_001360.3(DHCR7):c.995del (p.Leu332fs) rs1057516618
NM_001360.3(DHCR7):c.996G>A (p.Leu332=)
NM_001360.3(DHCR7):c.996G>C (p.Leu332=)
NM_001360.3(DHCR7):c.999C>T (p.Ser333=)
NM_001360.3(DHCR7):c.99G>A (p.Trp33Ter)
NM_001360.3(DHCR7):c.99_194del
NM_001360.3(DHCR7):c.9A>G (p.Ala3=) rs2120355320

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