ClinVar Miner

List of variants in gene ZFPM2 studied for 46,XY complete gonadal dysgenesis

Included ClinVar conditions (20):
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Gene type:
ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_012082.4(ZFPM2):c.302-13C>T rs3735953 0.68152
NM_012082.4(ZFPM2):c.532+28227T>C rs2218279 0.51867
NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly) rs11993776 0.18341
NM_012082.4(ZFPM2):c.1362A>G (p.Pro454=) rs920628 0.11991
NM_012082.4(ZFPM2):c.1776T>C (p.Pro592=) rs16873732 0.05790
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) rs28374544 0.04474
NM_012082.4(ZFPM2):c.3369A>G (p.Leu1123=) rs16873744 0.01580
NM_012082.4(ZFPM2):c.40+12C>G rs149902904 0.00711
NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn) rs202217256 0.00311
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_012082.4(ZFPM2):c.533-4A>T rs138466839 0.00296
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00293
NM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr) rs35843564 0.00290
NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr) rs182216711 0.00279
NM_012082.4(ZFPM2):c.739+19G>A rs140283741 0.00160
NM_012082.4(ZFPM2):c.1227G>T (p.Gln409His) rs201439692 0.00097
NM_012082.4(ZFPM2):c.41-4C>A rs374926066 0.00091
NM_012082.4(ZFPM2):c.1569G>C (p.Leu523=) rs920629 0.00079
NM_012082.4(ZFPM2):c.1578G>T (p.Arg526=) rs200643137 0.00066
NM_012082.4(ZFPM2):c.436G>C (p.Val146Leu) rs200168135 0.00059
NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val) rs202204708 0.00049
NM_012082.4(ZFPM2):c.1160C>G (p.Pro387Arg) rs181007123 0.00039
NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu) rs200671886 0.00034
NM_012082.4(ZFPM2):c.1871C>G (p.Ser624Cys) rs34248551 0.00027
NM_012082.4(ZFPM2):c.258A>G (p.Lys86=) rs200972094 0.00025
NM_012082.4(ZFPM2):c.200-8T>G rs573002259 0.00023
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala) rs199535268 0.00015
NM_012082.4(ZFPM2):c.1015G>A (p.Val339Ile) rs201845067 0.00014
NM_012082.4(ZFPM2):c.285C>T (p.Asp95=) rs371910925 0.00014
NM_012082.4(ZFPM2):c.1005A>G (p.Leu335=) rs1034200170 0.00011
NM_012082.4(ZFPM2):c.442A>G (p.Met148Val) rs370456245 0.00011
NM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val) rs376235097 0.00009
NM_012082.4(ZFPM2):c.74A>G (p.Glu25Gly) rs371244942 0.00009
NM_012082.4(ZFPM2):c.1164C>T (p.Ser388=) rs376392532 0.00006
NM_012082.4(ZFPM2):c.3438A>G (p.Ala1146=) rs369522665 0.00006
NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro) rs368572530 0.00006
NM_012082.4(ZFPM2):c.444G>C (p.Met148Ile) rs373855468 0.00005
NM_012082.4(ZFPM2):c.357A>G (p.Gln119=) rs556443661 0.00004
NM_012082.4(ZFPM2):c.384G>A (p.Pro128=) rs199814804 0.00004
NM_012082.4(ZFPM2):c.72A>G (p.Glu24=) rs1811743355 0.00004
NM_012082.4(ZFPM2):c.1218C>T (p.Asp406=) rs377293678 0.00003
NM_012082.4(ZFPM2):c.1274A>T (p.Lys425Met) rs771923819 0.00003
NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu) rs200311467 0.00003
NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile) rs575054307 0.00003
NM_012082.4(ZFPM2):c.1721G>A (p.Arg574Gln) rs773843701 0.00003
NM_012082.4(ZFPM2):c.421-10C>A rs761799802 0.00003
NM_012082.4(ZFPM2):c.421-5T>C rs552410913 0.00003
NM_012082.4(ZFPM2):c.664C>T (p.Arg222Cys) rs373471482 0.00003
NM_012082.4(ZFPM2):c.760T>G (p.Ser254Ala) rs953556550 0.00003
NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln) rs200834568 0.00003
NM_012082.4(ZFPM2):c.1866A>G (p.Gln622=) rs536037180 0.00002
NM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile) rs756076552 0.00002
NM_012082.4(ZFPM2):c.240G>T (p.Gly80=) rs765866053 0.00002
NM_012082.4(ZFPM2):c.1014C>T (p.Thr338=) rs141238169 0.00001
NM_012082.4(ZFPM2):c.1071T>C (p.His357=) rs1438808914 0.00001
NM_012082.4(ZFPM2):c.1161T>C (p.Pro387=) rs1295146665 0.00001
NM_012082.4(ZFPM2):c.1693G>T (p.Val565Leu) rs768944942 0.00001
NM_012082.4(ZFPM2):c.1851G>A (p.Glu617=) rs376766358 0.00001
NM_012082.4(ZFPM2):c.2119C>G (p.Gln707Glu) rs765282505 0.00001
NM_012082.4(ZFPM2):c.302-5T>C rs763335389 0.00001
NM_012082.4(ZFPM2):c.57C>T (p.Ala19=) rs186003344 0.00001
NM_012082.4(ZFPM2):c.582G>A (p.Glu194=) rs758169109 0.00001
NM_012082.4(ZFPM2):c.660T>C (p.Pro220=) rs1439864085 0.00001
NM_012082.4(ZFPM2):c.740-19C>T rs751110244 0.00001
NM_012082.4(ZFPM2):c.822T>C (p.Ser274=) rs777185799 0.00001
NM_012082.4(ZFPM2):c.846G>A (p.Pro282=) rs916094617 0.00001
NC_000008.10:g.(?_106331170)_(106674812_?)dup
NM_012082.4(ZFPM2):c.1038C>T (p.Ser346=)
NM_012082.4(ZFPM2):c.1110C>T (p.Phe370=) rs755422326
NM_012082.4(ZFPM2):c.1155T>C (p.His385=)
NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln) rs536096943
NM_012082.4(ZFPM2):c.1183A>G (p.Ser395Gly)
NM_012082.4(ZFPM2):c.1186G>A (p.Asp396Asn)
NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg) rs606231252
NM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro) rs1586283411
NM_012082.4(ZFPM2):c.1254C>T (p.Ser418=)
NM_012082.4(ZFPM2):c.1255G>A (p.Glu419Lys) rs374581095
NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys) rs569356297
NM_012082.4(ZFPM2):c.1313T>C (p.Leu438Pro)
NM_012082.4(ZFPM2):c.1334C>T (p.Thr445Ile)
NM_012082.4(ZFPM2):c.1349C>T (p.Thr450Met)
NM_012082.4(ZFPM2):c.1359A>C (p.Arg453Ser)
NM_012082.4(ZFPM2):c.139T>A (p.Ser47Thr)
NM_012082.4(ZFPM2):c.1413G>C (p.Lys471Asn)
NM_012082.4(ZFPM2):c.1436T>C (p.Leu479Pro) rs1586283783
NM_012082.4(ZFPM2):c.1456C>T (p.Pro486Ser)
NM_012082.4(ZFPM2):c.1463T>C (p.Ile488Thr)
NM_012082.4(ZFPM2):c.1477C>T (p.Pro493Ser)
NM_012082.4(ZFPM2):c.1492C>T (p.Leu498=)
NM_012082.4(ZFPM2):c.1494A>G (p.Leu498=) rs2131177786
NM_012082.4(ZFPM2):c.1510C>T (p.Pro504Ser)
NM_012082.4(ZFPM2):c.1592G>A (p.Gly531Asp)
NM_012082.4(ZFPM2):c.1620C>T (p.Tyr540=) rs1186450406
NM_012082.4(ZFPM2):c.1631T>C (p.Met544Thr)
NM_012082.4(ZFPM2):c.1632G>T (p.Met544Ile) rs187043152
NM_012082.4(ZFPM2):c.1639G>A (p.Gly547Arg) rs1409008207
NM_012082.4(ZFPM2):c.1641G>A (p.Gly547=) rs1586284129
NM_012082.4(ZFPM2):c.1667C>T (p.Thr556Ile)
NM_012082.4(ZFPM2):c.1710T>C (p.Tyr570=) rs2131178493
NM_012082.4(ZFPM2):c.1727A>G (p.Gln576Arg)
NM_012082.4(ZFPM2):c.1731G>A (p.Gln577=)
NM_012082.4(ZFPM2):c.1758T>A (p.Ser586Arg)
NM_012082.4(ZFPM2):c.1770G>C (p.Lys590Asn) rs533177469
NM_012082.4(ZFPM2):c.1786A>G (p.Ser596Gly)
NM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del) rs763555819
NM_012082.4(ZFPM2):c.1892T>G (p.Val631Gly)
NM_012082.4(ZFPM2):c.1894T>C (p.Leu632=) rs2131179002
NM_012082.4(ZFPM2):c.191G>A (p.Cys64Tyr)
NM_012082.4(ZFPM2):c.192T>G (p.Cys64Trp) rs1404513559
NM_012082.4(ZFPM2):c.1947A>G (p.Gln649=)
NM_012082.4(ZFPM2):c.2067_2071del (p.Glu690fs)
NM_012082.4(ZFPM2):c.2096A>C (p.His699Pro) rs368486644
NM_012082.4(ZFPM2):c.2097C>T (p.His699=) rs139368368
NM_012082.4(ZFPM2):c.241G>A (p.Asp81Asn)
NM_012082.4(ZFPM2):c.261G>A (p.Pro87=)
NM_012082.4(ZFPM2):c.261G>T (p.Pro87=) rs755810063
NM_012082.4(ZFPM2):c.280A>G (p.Thr94Ala)
NM_012082.4(ZFPM2):c.286G>T (p.Asp96Tyr)
NM_012082.4(ZFPM2):c.302-4G>A rs372818742
NM_012082.4(ZFPM2):c.322A>G (p.Lys108Glu) rs1815131947
NM_012082.4(ZFPM2):c.3366G>C (p.Arg1122=)
NM_012082.4(ZFPM2):c.3393T>G (p.Leu1131=)
NM_012082.4(ZFPM2):c.3418T>G (p.Phe1140Val)
NM_012082.4(ZFPM2):c.3428C>T (p.Ser1143Leu)
NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu) rs772114579
NM_012082.4(ZFPM2):c.40+11G>C
NM_012082.4(ZFPM2):c.41-10C>G
NM_012082.4(ZFPM2):c.420+15C>T
NM_012082.4(ZFPM2):c.420+16G>A
NM_012082.4(ZFPM2):c.445G>A (p.Val149Met)
NM_012082.4(ZFPM2):c.452C>T (p.Thr151Ile)
NM_012082.4(ZFPM2):c.477T>A (p.Asp159Glu)
NM_012082.4(ZFPM2):c.478G>A (p.Val160Met)
NM_012082.4(ZFPM2):c.490G>A (p.Gly164Arg)
NM_012082.4(ZFPM2):c.495G>A (p.Val165=)
NM_012082.4(ZFPM2):c.564C>T (p.Ala188=)
NM_012082.4(ZFPM2):c.593T>C (p.Phe198Ser) rs2131136061
NM_012082.4(ZFPM2):c.761C>T (p.Ser254Phe)
NM_012082.4(ZFPM2):c.787C>T (p.Arg263Trp)
NM_012082.4(ZFPM2):c.78A>G (p.Glu26=)
NM_012082.4(ZFPM2):c.813C>T (p.Tyr271=)
NM_012082.4(ZFPM2):c.842C>G (p.Ala281Gly)
NM_012082.4(ZFPM2):c.845C>T (p.Pro282Leu)
NM_012082.4(ZFPM2):c.860A>G (p.Asn287Ser)
NM_012082.4(ZFPM2):c.873C>A (p.Ala291=)
NM_012082.4(ZFPM2):c.898_900dup (p.Phe300_Pro301insPhe)
NM_012082.4(ZFPM2):c.90G>A (p.Glu30=)
NM_012082.4(ZFPM2):c.931C>T (p.Arg311Ter) rs1195263093
NM_012082.4(ZFPM2):c.945G>T (p.Met315Ile)
NM_012082.4(ZFPM2):c.959A>G (p.His320Arg)
NM_012082.4(ZFPM2):c.964+4A>C
NM_012082.4(ZFPM2):c.965-11T>C rs189501457
NM_012082.4(ZFPM2):c.965-9TC[2] rs147661076
NM_012082.4(ZFPM2):c.991C>T (p.Pro331Ser)
NM_012082.4(ZFPM2):c.996T>C (p.Gly332=)

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