ClinVar Miner

List of variants reported as likely benign for Smith-Lemli-Opitz syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 374
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HGVS dbSNP gnomAD frequency
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.1012G>A (p.Val338Met) rs72954276 0.00078
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
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.28C>G (p.Pro10Ala) rs139166382 0.00029
NM_001360.3(DHCR7):c.139C>T (p.Leu47=) rs140721259 0.00027
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.1410G>A (p.Leu470=) rs375993195 0.00012
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.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.690G>C (p.Gly230=) rs773393807 0.00009
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800 0.00009
NM_001360.3(DHCR7):c.123G>A (p.Ala41=) rs376263149 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.1011C>T (p.Ala337=) rs369382960 0.00006
NM_001360.3(DHCR7):c.522C>T (p.Phe174=) rs140648594 0.00006
NM_001360.3(DHCR7):c.957G>A (p.Thr319=) rs200157761 0.00006
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.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.1091C>T (p.Thr364Met) rs567600444 0.00004
NM_001360.3(DHCR7):c.1224C>T (p.Tyr408=) rs777148033 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.294G>A (p.Gln98=) rs1209981156 0.00004
NM_001360.3(DHCR7):c.723G>T (p.Gly241=) rs369654651 0.00004
NM_001360.3(DHCR7):c.795T>C (p.His265=) rs1472363309 0.00004
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.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.483C>T (p.Asn161=) rs750628746 0.00003
NM_001360.3(DHCR7):c.822C>T (p.Asn274=) rs139787408 0.00003
NM_001360.3(DHCR7):c.963+8G>A rs769446742 0.00003
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.1353C>T (p.Cys451=) rs951313798 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.507G>A (p.Ser169=) rs138185442 0.00002
NM_001360.3(DHCR7):c.543G>C (p.Leu181=) rs146839126 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.1002C>A (p.Thr334=) rs778753729 0.00001
NM_001360.3(DHCR7):c.1152C>T (p.Ser384=) rs145084285 0.00001
NM_001360.3(DHCR7):c.1203C>T (p.Gly401=) rs368867929 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.1284G>A (p.Leu428=) rs746928218 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.1427A>G (p.Ter476=) rs1202619413 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.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.322-7G>A rs1359774813 0.00001
NM_001360.3(DHCR7):c.342C>A (p.Leu114=) rs773047702 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.504C>T (p.Phe168=) rs1949345995 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.579C>G (p.Thr193=) rs778664009 0.00001
NM_001360.3(DHCR7):c.669C>T (p.Ile223=) rs879926326 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.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.831+7G>A rs1318919210 0.00001
NM_001360.3(DHCR7):c.867C>T (p.Thr289=) rs761602799 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.954C>T (p.Tyr318=) rs1238806817 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
NM_001360.3(DHCR7):c.1005G>C (p.Pro335=) rs768765843
NM_001360.3(DHCR7):c.1011C>G (p.Ala337=) rs369382960
NM_001360.3(DHCR7):c.1017C>G (p.Gly339=)
NM_001360.3(DHCR7):c.1020C>T (p.Val340=) rs763165078
NM_001360.3(DHCR7):c.1035G>C (p.Leu345=)
NM_001360.3(DHCR7):c.1041C>T (p.Gly347=)
NM_001360.3(DHCR7):c.1047C>T (p.Tyr349=)
NM_001360.3(DHCR7):c.1050C>T (p.Ile350=)
NM_001360.3(DHCR7):c.1056G>A (p.Arg352=)
NM_001360.3(DHCR7):c.1056G>T (p.Arg352=) rs1214267485
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.1077C>T (p.Asp359=) rs1346912055
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.1098G>A (p.Gly366=) rs2135939894
NM_001360.3(DHCR7):c.1107C>T (p.Leu369=)
NM_001360.3(DHCR7):c.1110C>T (p.Ile370=) rs2135939865
NM_001360.3(DHCR7):c.1131C>A (p.Val377=) rs2135939836
NM_001360.3(DHCR7):c.1137G>A (p.Glu379=)
NM_001360.3(DHCR7):c.1146C>T (p.Tyr382=) rs1555145605
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.1170C>T (p.His390=) rs2135939762
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.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.1204G>A (p.Val402Met)
NM_001360.3(DHCR7):c.1209C>T (p.Ala403=) rs1321822921
NM_001360.3(DHCR7):c.1212C>T (p.Arg404=)
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.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>T (p.Tyr430=) rs140791666
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.1323C>T (p.Thr441=)
NM_001360.3(DHCR7):c.1326C>T (p.His442=)
NM_001360.3(DHCR7):c.1347C>T (p.His449=) rs963669095
NM_001360.3(DHCR7):c.1356C>T (p.Ala452=)
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.1395A>T (p.Ala465=)
NM_001360.3(DHCR7):c.1398G>A (p.Val466=) rs2135939416
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.150C>T (p.Ala50=) rs540098203
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.174C>T (p.Ile58=)
NM_001360.3(DHCR7):c.186C>T (p.Asp62=)
NM_001360.3(DHCR7):c.18A>G (p.Gln6=)
NM_001360.3(DHCR7):c.192C>T (p.Tyr64=)
NM_001360.3(DHCR7):c.201C>T (p.Ala67=)
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.228C>T (p.Val76=) rs2135947126
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.246C>G (p.Leu82=) rs2135947085
NM_001360.3(DHCR7):c.249G>A (p.Ser83=)
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.282G>A (p.Arg94=) rs541593878
NM_001360.3(DHCR7):c.297C>T (p.Leu99=)
NM_001360.3(DHCR7):c.304T>C (p.Leu102=) rs1591113264
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+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.322-9G>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.354C>T (p.Cys118=) rs1377670887
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.378A>G (p.Val126=)
NM_001360.3(DHCR7):c.381A>G (p.Gly127=)
NM_001360.3(DHCR7):c.393G>A (p.Glu131=) rs2135945482
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+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.413-6C>A
NM_001360.3(DHCR7):c.413-8A>G
NM_001360.3(DHCR7):c.413-8A>T
NM_001360.3(DHCR7):c.42T>C (p.Ser14=) rs2120355286
NM_001360.3(DHCR7):c.435C>A (p.Ile145=)
NM_001360.3(DHCR7):c.450C>A (p.Ala150=)
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.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.492C>G (p.Leu164=) rs759538408
NM_001360.3(DHCR7):c.492C>T (p.Leu164=) rs759538408
NM_001360.3(DHCR7):c.507G>T (p.Ser169=)
NM_001360.3(DHCR7):c.534C>T (p.Ile178=) rs1349721227
NM_001360.3(DHCR7):c.537A>G (p.Pro179=)
NM_001360.3(DHCR7):c.552C>T (p.Ala184=)
NM_001360.3(DHCR7):c.555C>T (p.Asn185=)
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.576C>T (p.Ser192=) rs760123718
NM_001360.3(DHCR7):c.585C>T (p.Ala195=) rs2135944558
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+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+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.636A>G (p.Thr212=)
NM_001360.3(DHCR7):c.636A>T (p.Thr212=)
NM_001360.3(DHCR7):c.657C>T (p.Tyr219=)
NM_001360.3(DHCR7):c.687C>T (p.Ile229=) rs267603172
NM_001360.3(DHCR7):c.708G>A (p.Lys236=)
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.726C>T (p.Arg242=) rs1289838516
NM_001360.3(DHCR7):c.735C>A (p.Ile245=) rs12800
NM_001360.3(DHCR7):c.747C>G (p.Thr249=) rs2135942748
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.762C>T (p.Ser254=)
NM_001360.3(DHCR7):c.768A>G (p.Ala256=)
NM_001360.3(DHCR7):c.774G>A (p.Lys258=)
NM_001360.3(DHCR7):c.778C>A (p.Arg260=) rs777617141
NM_001360.3(DHCR7):c.789C>T (p.His263=) rs754320411
NM_001360.3(DHCR7):c.804T>C (p.Asn268=)
NM_001360.3(DHCR7):c.807C>A (p.Ala269=)
NM_001360.3(DHCR7):c.814C>T (p.Leu272=)
NM_001360.3(DHCR7):c.816G>T (p.Leu272=)
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.832-20C>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.837C>T (p.Ile279=) rs1949304955
NM_001360.3(DHCR7):c.849C>T (p.Asp283=)
NM_001360.3(DHCR7):c.861C>T (p.Asn287=) rs766495775
NM_001360.3(DHCR7):c.874C>T (p.Leu292=)
NM_001360.3(DHCR7):c.876G>A (p.Leu292=)
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.891C>T (p.Ile297=) rs2135941843
NM_001360.3(DHCR7):c.903C>T (p.His301=) rs1949302945
NM_001360.3(DHCR7):c.906C>T (p.Phe302=) rs80338858
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.915C>T (p.Tyr305=) rs1555145867
NM_001360.3(DHCR7):c.927C>T (p.Gly309=)
NM_001360.3(DHCR7):c.930C>T (p.Asp310=)
NM_001360.3(DHCR7):c.936C>G (p.Val312=)
NM_001360.3(DHCR7):c.942G>A (p.Leu314=)
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.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+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.964-23_964-20dup
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.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+7A>C
NM_001360.3(DHCR7):c.98+9C>T rs2120355238
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.99-20G>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.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.9A>G (p.Ala3=) rs2120355320

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