ClinVar Miner

List of variants reported as uncertain significance for pseudoxanthoma elasticum, forme fruste

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 293
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile) rs72653792 0.00044
NM_001171.6(ABCC6):c.3892G>A (p.Val1298Ile) rs63751325 0.00029
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys) rs201766106 0.00028
NM_001171.6(ABCC6):c.4105G>A (p.Glu1369Lys) rs60285147 0.00021
NM_001171.6(ABCC6):c.3979G>A (p.Gly1327Arg) rs79536709 0.00017
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu) rs151187637 0.00016
NM_001171.6(ABCC6):c.2074G>A (p.Ala692Thr) rs151272575 0.00016
NM_001171.6(ABCC6):c.1060G>A (p.Val354Met) rs372132926 0.00015
NM_001171.6(ABCC6):c.1285G>A (p.Gly429Arg) rs978346965 0.00015
NM_001171.6(ABCC6):c.3306+5G>A rs369806278 0.00012
NM_001171.6(ABCC6):c.3431C>T (p.Ala1144Val) rs145553069 0.00012
NM_001171.6(ABCC6):c.1120C>G (p.Leu374Val) rs370022963 0.00011
NM_001171.6(ABCC6):c.1465C>T (p.Arg489Trp) rs754360599 0.00011
NM_001171.6(ABCC6):c.2140G>A (p.Gly714Arg) rs200513114 0.00011
NM_001171.6(ABCC6):c.3524T>C (p.Val1175Ala) rs376062004 0.00011
NM_001171.6(ABCC6):c.3778C>G (p.Pro1260Ala) rs149151337 0.00011
NM_001171.6(ABCC6):c.3802C>T (p.Arg1268Trp) rs368379895 0.00011
NM_001171.6(ABCC6):c.1058C>T (p.Ala353Val) rs369074083 0.00010
NM_001171.6(ABCC6):c.890G>A (p.Arg297His) rs199729978 0.00010
NM_001171.6(ABCC6):c.1193G>T (p.Ser398Ile) rs769882654 0.00009
NM_001171.6(ABCC6):c.1963C>A (p.Gln655Lys) rs369410139 0.00009
NM_001171.6(ABCC6):c.2415A>G (p.Thr805=) rs748500639 0.00009
NM_001171.6(ABCC6):c.2660G>A (p.Arg887His) rs201334880 0.00009
NM_001171.6(ABCC6):c.2782G>A (p.Gly928Ser) rs142470921 0.00009
NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln) rs201275608 0.00009
NM_001171.6(ABCC6):c.2059G>A (p.Val687Met) rs368806440 0.00008
NM_001171.6(ABCC6):c.2635G>A (p.Ala879Thr) rs377008733 0.00008
NM_001171.6(ABCC6):c.1324G>A (p.Val442Ile) rs372059636 0.00007
NM_001171.6(ABCC6):c.2119G>A (p.Val707Met) rs372121585 0.00007
NM_001171.6(ABCC6):c.1843G>A (p.Val615Ile) rs372235202 0.00006
NM_001171.6(ABCC6):c.191G>A (p.Arg64Gln) rs777566074 0.00006
NM_001171.6(ABCC6):c.2409G>C (p.Gln803His) rs116898670 0.00006
NM_001171.6(ABCC6):c.2922C>A (p.Asp974Glu) rs749463148 0.00006
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His) rs553479685 0.00006
NM_001171.6(ABCC6):c.3691G>A (p.Val1231Met) rs141728905 0.00006
NM_001171.6(ABCC6):c.3725C>T (p.Thr1242Met) rs141449320 0.00006
NM_001171.6(ABCC6):c.3836C>T (p.Pro1279Leu) rs77913024 0.00006
NM_001171.6(ABCC6):c.4210G>A (p.Val1404Met) rs200485267 0.00006
NM_001171.6(ABCC6):c.4391T>C (p.Met1464Thr) rs774296589 0.00006
NM_001171.6(ABCC6):c.4477T>C (p.Phe1493Leu) rs778956327 0.00006
NM_001171.6(ABCC6):c.2650G>A (p.Glu884Lys) rs138049574 0.00005
NM_001171.6(ABCC6):c.3457C>T (p.Arg1153Cys) rs762758350 0.00005
NM_001171.6(ABCC6):c.1249G>A (p.Val417Met) rs768869262 0.00004
NM_001171.6(ABCC6):c.1354G>A (p.Ala452Thr) rs761364455 0.00004
NM_001171.6(ABCC6):c.1780-11G>A rs532189625 0.00004
NM_001171.6(ABCC6):c.2125G>A (p.Glu709Lys) rs114303883 0.00004
NM_001171.6(ABCC6):c.259G>A (p.Val87Met) rs1021031399 0.00004
NM_001171.6(ABCC6):c.2661C>T (p.Arg887=) rs376958386 0.00004
NM_001171.6(ABCC6):c.3043C>T (p.Arg1015Trp) rs756768329 0.00004
NM_001171.6(ABCC6):c.3460G>A (p.Val1154Ile) rs147794514 0.00004
NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln) rs138700741 0.00004
NM_001171.6(ABCC6):c.3787G>A (p.Gly1263Arg) rs760376992 0.00004
NM_001171.6(ABCC6):c.4130C>T (p.Thr1377Met) rs371122482 0.00004
NM_001171.6(ABCC6):c.4294G>A (p.Val1432Met) rs531418668 0.00004
NM_001171.6(ABCC6):c.4382G>A (p.Arg1461His) rs57288618 0.00004
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser) rs63751279 0.00004
NM_001171.6(ABCC6):c.1264G>A (p.Glu422Lys) rs770532500 0.00003
NM_001171.6(ABCC6):c.1318T>G (p.Cys440Gly) rs72653766 0.00003
NM_001171.6(ABCC6):c.1577G>A (p.Arg526Gln) rs761847996 0.00003
NM_001171.6(ABCC6):c.1652T>C (p.Phe551Ser) rs72653774 0.00003
NM_001171.6(ABCC6):c.2291C>T (p.Ala764Val) rs748000420 0.00003
NM_001171.6(ABCC6):c.3106_3108del (p.Phe1036del) rs72664230 0.00003
NM_001171.6(ABCC6):c.3145T>G (p.Ser1049Ala) rs72657693 0.00003
NM_001171.6(ABCC6):c.3997G>A (p.Val1333Met) rs142505247 0.00003
NM_001171.6(ABCC6):c.469G>A (p.Gly157Arg) rs1209940471 0.00003
NM_001171.6(ABCC6):c.1088A>C (p.Gln363Pro) rs944015667 0.00002
NM_001171.6(ABCC6):c.1491C>A (p.Asn497Lys) rs72653770 0.00002
NM_001171.6(ABCC6):c.1735A>G (p.Lys579Glu) rs749017755 0.00002
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile) rs190761354 0.00002
NM_001171.6(ABCC6):c.1780-17G>A rs547175985 0.00002
NM_001171.6(ABCC6):c.2237T>C (p.Ile746Thr) rs769753486 0.00002
NM_001171.6(ABCC6):c.2342C>T (p.Ala781Val) rs72653791 0.00002
NM_001171.6(ABCC6):c.3191G>A (p.Arg1064Gln) rs774796759 0.00002
NM_001171.6(ABCC6):c.3586C>G (p.His1196Asp) rs146284800 0.00002
NM_001171.6(ABCC6):c.3606G>A (p.Val1202=) rs766504801 0.00002
NM_001171.6(ABCC6):c.3853G>A (p.Val1285Met) rs141731889 0.00002
NM_001171.6(ABCC6):c.3882+5G>A rs774245200 0.00002
NM_001171.6(ABCC6):c.1144C>T (p.Arg382Trp) rs72653761 0.00001
NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe) rs747386965 0.00001
NM_001171.6(ABCC6):c.1243G>A (p.Val415Met) rs200582171 0.00001
NM_001171.6(ABCC6):c.1258C>G (p.Leu420Val) rs746428588 0.00001
NM_001171.6(ABCC6):c.1261A>G (p.Thr421Ala) rs932396289 0.00001
NM_001171.6(ABCC6):c.130C>G (p.Leu44Val) rs940803158 0.00001
NM_001171.6(ABCC6):c.1575G>T (p.Leu525Phe) rs1348337015 0.00001
NM_001171.6(ABCC6):c.1635+5C>T rs545106514 0.00001
NM_001171.6(ABCC6):c.1649T>C (p.Val550Ala) rs914084997 0.00001
NM_001171.6(ABCC6):c.1699G>A (p.Ala567Thr) rs143092672 0.00001
NM_001171.6(ABCC6):c.1760C>G (p.Ser587Cys) rs527236047 0.00001
NM_001171.6(ABCC6):c.1784G>A (p.Arg595Gln) rs762499171 0.00001
NM_001171.6(ABCC6):c.1812C>A (p.Phe604Leu) rs776483503 0.00001
NM_001171.6(ABCC6):c.1837G>A (p.Gly613Ser) rs369816256 0.00001
NM_001171.6(ABCC6):c.2086G>A (p.Val696Met) rs143731811 0.00001
NM_001171.6(ABCC6):c.2261C>G (p.Ser754Cys) rs866196138 0.00001
NM_001171.6(ABCC6):c.2396G>T (p.Gly799Val) rs775412517 0.00001
NM_001171.6(ABCC6):c.2501T>C (p.Met834Thr) rs1355752953 0.00001
NM_001171.6(ABCC6):c.2530A>C (p.Lys844Gln) rs201884545 0.00001
NM_001171.6(ABCC6):c.2599C>T (p.Pro867Ser) rs376512808 0.00001
NM_001171.6(ABCC6):c.2882C>T (p.Ser961Phe) rs987609654 0.00001
NM_001171.6(ABCC6):c.2891G>C (p.Arg964Pro) rs72657691 0.00001
NM_001171.6(ABCC6):c.2909T>A (p.Leu970Gln) rs776512349 0.00001
NM_001171.6(ABCC6):c.2965G>A (p.Gly989Arg) rs529676674 0.00001
NM_001171.6(ABCC6):c.3381G>A (p.Met1127Ile) rs63750758 0.00001
NM_001171.6(ABCC6):c.3488C>T (p.Pro1163Leu) rs142128765 0.00001
NM_001171.6(ABCC6):c.3604G>A (p.Val1202Met) rs752683023 0.00001
NM_001171.6(ABCC6):c.3612C>G (p.Phe1204Leu) rs1464733728 0.00001
NM_001171.6(ABCC6):c.3770C>A (p.Pro1257His) rs576328904 0.00001
NM_001171.6(ABCC6):c.3977A>G (p.Asp1326Gly) rs929166866 0.00001
NM_001171.6(ABCC6):c.4189G>A (p.Asp1397Asn) rs749035807 0.00001
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys) rs72547524 0.00001
NM_001171.6(ABCC6):c.4381C>T (p.Arg1461Cys) rs1030872147 0.00001
NM_001171.6(ABCC6):c.4387G>A (p.Val1463Met) rs759407080 0.00001
NM_001171.6(ABCC6):c.560C>T (p.Ala187Val) rs561266462 0.00001
NM_001171.6(ABCC6):c.751C>T (p.Arg251Trp) rs199645691 0.00001
NM_001171.6(ABCC6):c.1001T>G (p.Leu334Arg)
NM_001171.6(ABCC6):c.1016T>C (p.Ile339Thr)
NM_001171.6(ABCC6):c.1021G>C (p.Asp341His)
NM_001171.6(ABCC6):c.1060_1062delinsTTT (p.Val354Phe)
NM_001171.6(ABCC6):c.107G>A (p.Gly36Glu)
NM_001171.6(ABCC6):c.1088A>G (p.Gln363Arg)
NM_001171.6(ABCC6):c.1111A>G (p.Met371Val)
NM_001171.6(ABCC6):c.111C>G (p.Val37=)
NM_001171.6(ABCC6):c.1145G>A (p.Arg382Gln)
NM_001171.6(ABCC6):c.1214C>T (p.Ala405Val) rs115663615
NM_001171.6(ABCC6):c.1232A>G (p.Asn411Ser)
NM_001171.6(ABCC6):c.1232_1233delinsGC (p.Asn411Ser) rs2152278438
NM_001171.6(ABCC6):c.1234C>G (p.Leu412Val)
NM_001171.6(ABCC6):c.1242C>T (p.Ser414=)
NM_001171.6(ABCC6):c.126G>A (p.Met42Ile)
NM_001171.6(ABCC6):c.1291T>C (p.Trp431Arg) rs2048112873
NM_001171.6(ABCC6):c.1303G>A (p.Val435Ile)
NM_001171.6(ABCC6):c.1315G>A (p.Val439Ile)
NM_001171.6(ABCC6):c.1345G>A (p.Gly449Arg)
NM_001171.6(ABCC6):c.1364C>T (p.Ala455Val)
NM_001171.6(ABCC6):c.1431+3T>G
NM_001171.6(ABCC6):c.1432-5C>T rs2152270212
NM_001171.6(ABCC6):c.1459C>T (p.Arg487Trp)
NM_001171.6(ABCC6):c.145C>G (p.Pro49Ala)
NM_001171.6(ABCC6):c.1462G>A (p.Ala488Thr)
NM_001171.6(ABCC6):c.1466G>A (p.Arg489Gln)
NM_001171.6(ABCC6):c.1471A>G (p.Thr491Ala)
NM_001171.6(ABCC6):c.148A>G (p.Ile50Val)
NM_001171.6(ABCC6):c.1501A>T (p.Ile501Phe) rs772952563
NM_001171.6(ABCC6):c.1506G>T (p.Lys502Asn)
NM_001171.6(ABCC6):c.1555G>A (p.Gly519Ser) rs2047802820
NM_001171.6(ABCC6):c.1565T>C (p.Leu522Pro) rs1555514895
NM_001171.6(ABCC6):c.1570G>A (p.Ala524Thr) rs143588929
NM_001171.6(ABCC6):c.1570G>T (p.Ala524Ser) rs143588929
NM_001171.6(ABCC6):c.1611G>A (p.Val537=) rs1486197417
NM_001171.6(ABCC6):c.1636-3dup
NM_001171.6(ABCC6):c.1639G>T (p.Ala547Ser)
NM_001171.6(ABCC6):c.167A>G (p.His56Arg)
NM_001171.6(ABCC6):c.1685T>C (p.Met562Thr) rs72653775
NM_001171.6(ABCC6):c.170A>G (p.His57Arg)
NM_001171.6(ABCC6):c.1742A>C (p.Gln581Pro)
NM_001171.6(ABCC6):c.1763T>G (p.Ile588Ser)
NM_001171.6(ABCC6):c.1774G>C (p.Val592Leu)
NM_001171.6(ABCC6):c.17A>T (p.Glu6Val)
NM_001171.6(ABCC6):c.181G>A (p.Gly61Ser)
NM_001171.6(ABCC6):c.1885A>G (p.Ile629Val) rs1208037787
NM_001171.6(ABCC6):c.190C>T (p.Arg64Trp)
NM_001171.6(ABCC6):c.1966G>A (p.Gly656Ser)
NM_001171.6(ABCC6):c.1987G>A (p.Gly663Ser) rs72653780
NM_001171.6(ABCC6):c.2095G>A (p.Glu699Lys)
NM_001171.6(ABCC6):c.2104G>C (p.Val702Leu) rs893859633
NM_001171.6(ABCC6):c.2106_2107delinsAG (p.Gln703Glu)
NM_001171.6(ABCC6):c.2131G>A (p.Val711Met) rs200800189
NM_001171.6(ABCC6):c.2131G>C (p.Val711Leu) rs200800189
NM_001171.6(ABCC6):c.2134T>C (p.Cys712Arg) rs140013237
NM_001171.6(ABCC6):c.215A>G (p.Lys72Arg)
NM_001171.6(ABCC6):c.219G>A (p.Met73Ile)
NM_001171.6(ABCC6):c.2207A>G (p.Asp736Gly)
NM_001171.6(ABCC6):c.2248G>T (p.Gly750Cys)
NM_001171.6(ABCC6):c.2329G>A (p.Asp777Asn) rs72653790
NM_001171.6(ABCC6):c.232G>A (p.Ala78Thr) rs2856597
NM_001171.6(ABCC6):c.2335C>A (p.Pro779Thr)
NM_001171.6(ABCC6):c.2336C>T (p.Pro779Leu)
NM_001171.6(ABCC6):c.2356C>A (p.His786Asn)
NM_001171.6(ABCC6):c.2368C>T (p.His790Tyr)
NM_001171.6(ABCC6):c.2395G>A (p.Gly799Ser)
NM_001171.6(ABCC6):c.2408A>G (p.Gln803Arg) rs933105824
NM_001171.6(ABCC6):c.2416-10C>A
NM_001171.6(ABCC6):c.2536G>A (p.Ala846Thr)
NM_001171.6(ABCC6):c.2553G>A (p.Leu851=)
NM_001171.6(ABCC6):c.2569C>G (p.Pro857Ala)
NM_001171.6(ABCC6):c.263C>T (p.Ala88Val)
NM_001171.6(ABCC6):c.2678C>T (p.Ser893Leu)
NM_001171.6(ABCC6):c.2686G>A (p.Glu896Lys) rs775243858
NM_001171.6(ABCC6):c.26C>A (p.Ala9Glu) rs1555523855
NM_001171.6(ABCC6):c.26C>T (p.Ala9Val)
NM_001171.6(ABCC6):c.2738C>A (p.Pro913His)
NM_001171.6(ABCC6):c.2749G>C (p.Gly917Arg)
NM_001171.6(ABCC6):c.274T>C (p.Trp92Arg)
NM_001171.6(ABCC6):c.2758G>C (p.Ala920Pro)
NM_001171.6(ABCC6):c.2818C>T (p.Arg940Cys)
NM_001171.6(ABCC6):c.2827G>T (p.Gly943Cys)
NM_001171.6(ABCC6):c.2890C>T (p.Arg964Trp)
NM_001171.6(ABCC6):c.2894G>A (p.Gly965Asp)
NM_001171.6(ABCC6):c.2917G>A (p.Asp973Asn)
NM_001171.6(ABCC6):c.2928A>C (p.Ala976=)
NM_001171.6(ABCC6):c.293C>T (p.Thr98Met)
NM_001171.6(ABCC6):c.2959C>T (p.Arg987Cys)
NM_001171.6(ABCC6):c.2960G>A (p.Arg987His)
NM_001171.6(ABCC6):c.301G>T (p.Ala101Ser)
NM_001171.6(ABCC6):c.3044G>A (p.Arg1015Gln)
NM_001171.6(ABCC6):c.3092C>G (p.Ser1031Cys) rs998685024
NM_001171.6(ABCC6):c.3107T>C (p.Phe1036Ser)
NM_001171.6(ABCC6):c.3143_3145del (p.Phe1048del) rs769437554
NM_001171.6(ABCC6):c.3184A>G (p.Lys1062Glu)
NM_001171.6(ABCC6):c.3205T>G (p.Tyr1069Asp)
NM_001171.6(ABCC6):c.3208G>A (p.Ala1070Thr)
NM_001171.6(ABCC6):c.3226G>T (p.Val1076Phe)
NM_001171.6(ABCC6):c.3235G>C (p.Val1079Leu)
NM_001171.6(ABCC6):c.3239T>C (p.Val1080Ala)
NM_001171.6(ABCC6):c.328G>A (p.Val110Met)
NM_001171.6(ABCC6):c.3301T>C (p.Phe1101Leu)
NM_001171.6(ABCC6):c.3306+5G>C rs369806278
NM_001171.6(ABCC6):c.3306+8G>A
NM_001171.6(ABCC6):c.3326C>T (p.Ser1109Leu) rs758648156
NM_001171.6(ABCC6):c.341C>T (p.Thr114Met)
NM_001171.6(ABCC6):c.34G>C (p.Gly12Arg)
NM_001171.6(ABCC6):c.3530T>G (p.Leu1177Arg)
NM_001171.6(ABCC6):c.3563C>T (p.Thr1188Met)
NM_001171.6(ABCC6):c.3565T>C (p.Cys1189Arg)
NM_001171.6(ABCC6):c.3592A>G (p.Ser1198Gly)
NM_001171.6(ABCC6):c.3686G>A (p.Ser1229Asn) rs940876455
NM_001171.6(ABCC6):c.3698T>C (p.Val1233Ala)
NM_001171.6(ABCC6):c.372C>A (p.Thr124=)
NM_001171.6(ABCC6):c.373G>A (p.Glu125Lys) rs879956688
NM_001171.6(ABCC6):c.3746G>A (p.Arg1249Lys)
NM_001171.6(ABCC6):c.3755C>T (p.Thr1252Ile) rs143212758
NM_001171.6(ABCC6):c.3773C>G (p.Pro1258Arg)
NM_001171.6(ABCC6):c.3783G>C (p.Gln1261His)
NM_001171.6(ABCC6):c.3786C>T (p.Gly1262=)
NM_001171.6(ABCC6):c.3796G>A (p.Glu1266Lys)
NM_001171.6(ABCC6):c.3844G>C (p.Val1282Leu)
NM_001171.6(ABCC6):c.3883-5G>A rs72664213
NM_001171.6(ABCC6):c.3920C>T (p.Ser1307Phe)
NM_001171.6(ABCC6):c.392A>G (p.Gln131Arg)
NM_001171.6(ABCC6):c.3934C>T (p.Leu1312=)
NM_001171.6(ABCC6):c.3939G>T (p.Leu1313=)
NM_001171.6(ABCC6):c.3955G>T (p.Ala1319Ser)
NM_001171.6(ABCC6):c.3992C>T (p.Ala1331Val)
NM_001171.6(ABCC6):c.4041+3G>A
NM_001171.6(ABCC6):c.4081G>T (p.Asp1361Tyr)
NM_001171.6(ABCC6):c.4109C>T (p.Ala1370Val)
NM_001171.6(ABCC6):c.4165G>A (p.Gly1389Ser)
NM_001171.6(ABCC6):c.4191C>G (p.Asp1397Glu) rs1021172050
NM_001171.6(ABCC6):c.4197C>T (p.Gly1399=)
NM_001171.6(ABCC6):c.4208G>T (p.Ser1403Ile)
NM_001171.6(ABCC6):c.4209C>T (p.Ser1403=) rs63750700
NM_001171.6(ABCC6):c.4252C>A (p.Arg1418=)
NM_001171.6(ABCC6):c.4282G>T (p.Ala1428Ser)
NM_001171.6(ABCC6):c.4304G>A (p.Gly1435Asp)
NM_001171.6(ABCC6):c.4330C>T (p.Leu1444Phe)
NM_001171.6(ABCC6):c.4370C>T (p.Ala1457Val)
NM_001171.6(ABCC6):c.4402C>T (p.Arg1468Trp)
NM_001171.6(ABCC6):c.4427A>G (p.Gln1476Arg)
NM_001171.6(ABCC6):c.4448C>A (p.Pro1483Gln) rs63750135
NM_001171.6(ABCC6):c.4448C>T (p.Pro1483Leu) rs63750135
NM_001171.6(ABCC6):c.4459C>G (p.Leu1487Val)
NM_001171.6(ABCC6):c.466T>A (p.Ser156Thr)
NM_001171.6(ABCC6):c.4G>A (p.Ala2Thr)
NM_001171.6(ABCC6):c.561G>A (p.Ala187=)
NM_001171.6(ABCC6):c.572C>G (p.Pro191Arg)
NM_001171.6(ABCC6):c.580C>T (p.Pro194Ser)
NM_001171.6(ABCC6):c.601-11_601-10insGGA
NM_001171.6(ABCC6):c.601-5T>A
NM_001171.6(ABCC6):c.640G>A (p.Ala214Thr)
NM_001171.6(ABCC6):c.675G>C (p.Arg225Ser)
NM_001171.6(ABCC6):c.67G>A (p.Ala23Thr)
NM_001171.6(ABCC6):c.706C>T (p.Leu236Phe)
NM_001171.6(ABCC6):c.719G>A (p.Gly240Glu)
NM_001171.6(ABCC6):c.732_734delinsAGA (p.Ser245Glu)
NM_001171.6(ABCC6):c.749C>G (p.Ser250Cys)
NM_001171.6(ABCC6):c.754C>T (p.Leu252Phe) rs72653757
NM_001171.6(ABCC6):c.765G>T (p.Glu255Asp)
NM_001171.6(ABCC6):c.788C>G (p.Ala263Gly)
NM_001171.6(ABCC6):c.791G>A (p.Arg264Gln)
NM_001171.6(ABCC6):c.792G>T (p.Arg264=)
NM_001171.6(ABCC6):c.795-11C>T
NM_001171.6(ABCC6):c.818A>G (p.Lys273Arg)
NM_001171.6(ABCC6):c.840G>C (p.Met280Ile)
NM_001171.6(ABCC6):c.844G>C (p.Ala282Pro)
NM_001171.6(ABCC6):c.856G>C (p.Glu286Gln)
NM_001171.6(ABCC6):c.869G>A (p.Arg290Gln)
NM_001171.6(ABCC6):c.889C>T (p.Arg297Cys)
NM_001171.6(ABCC6):c.939G>C (p.Leu313=)
NM_001171.6(ABCC6):c.940G>C (p.Gly314Arg)
NM_001171.6(ABCC6):c.998+5G>A
NM_001171.6(ABCC6):c.998G>C (p.Ser333Thr)
NM_001171.6(ABCC6):c.99A>T (p.Arg33Ser)

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