ClinVar Miner

List of variants reported as likely benign for 46,XY complete gonadal dysgenesis

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 309
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HGVS dbSNP gnomAD frequency
NM_021044.4(DHH):c.*219G>A rs145466782 0.02062
NM_012082.4(ZFPM2):c.40+12C>G rs149902904 0.00711
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00293
NM_012082.4(ZFPM2):c.1227G>T (p.Gln409His) rs201439692 0.00097
NM_005921.2(MAP3K1):c.710A>G (p.Gln237Arg) rs55694258 0.00088
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) rs151317312 0.00084
NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr) rs139881948 0.00073
NM_012082.4(ZFPM2):c.3268G>A (p.Val1090Ile) rs191385674 0.00060
NM_012082.4(ZFPM2):c.436G>C (p.Val146Leu) rs200168135 0.00059
NM_021044.4(DHH):c.1134T>A (p.Thr378=) rs144444357 0.00053
NM_005921.2(MAP3K1):c.138G>A (p.Glu46=) rs1051867310 0.00052
NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val) rs202204708 0.00049
NM_000475.5(NR0B1):c.222A>G (p.Pro74=) rs1337374469 0.00046
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_012082.4(ZFPM2):c.1160C>G (p.Pro387Arg) rs181007123 0.00039
NM_032656.4(DHX37):c.985G>A (p.Val329Ile) rs112262509 0.00039
NM_005921.2(MAP3K1):c.2598C>T (p.Ala866=) rs201679580 0.00035
NM_012082.4(ZFPM2):c.1871C>G (p.Ser624Cys) rs34248551 0.00027
NM_005921.2(MAP3K1):c.2431A>G (p.Met811Val) rs189290632 0.00026
NM_012082.4(ZFPM2):c.3049G>A (p.Gly1017Ser) rs201106296 0.00022
NM_005921.2(MAP3K1):c.3857A>T (p.Glu1286Val) rs371578161 0.00021
NM_005921.2(MAP3K1):c.934A>T (p.Met312Leu) rs376808920 0.00020
NM_021044.4(DHH):c.234G>A (p.Val78=) rs370468314 0.00018
NM_005921.2(MAP3K1):c.576C>T (p.Thr192=) rs372106846 0.00017
NM_005921.2(MAP3K1):c.743G>A (p.Arg248Gln) rs201579608 0.00015
NM_012082.4(ZFPM2):c.285C>T (p.Asp95=) rs371910925 0.00014
NM_005921.2(MAP3K1):c.2571G>A (p.Met857Ile) rs367884272 0.00012
NM_012082.4(ZFPM2):c.1005A>G (p.Leu335=) rs1034200170 0.00011
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) rs776059398 0.00009
NM_000475.5(NR0B1):c.207C>T (p.Cys69=) rs1274628114 0.00008
NM_005921.2(MAP3K1):c.2479G>A (p.Val827Ile) rs763246417 0.00007
NM_005921.2(MAP3K1):c.1921A>G (p.Met641Val) rs759485701 0.00006
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_000475.5(NR0B1):c.965C>G (p.Thr322Ser) rs776650491 0.00005
NM_005921.2(MAP3K1):c.917G>A (p.Arg306His) rs375262853 0.00005
NM_012082.4(ZFPM2):c.2262A>G (p.Pro754=) rs369014203 0.00005
NM_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 0.00004
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_000475.5(NR0B1):c.1176G>A (p.Pro392=) rs778616722 0.00003
NM_000475.5(NR0B1):c.324G>A (p.Ser108=) rs147442403 0.00003
NM_005921.2(MAP3K1):c.2617G>A (p.Val873Ile) rs149242419 0.00003
NM_005921.2(MAP3K1):c.3070A>C (p.Lys1024Gln) rs780666910 0.00003
NM_005921.2(MAP3K1):c.4107T>C (p.Asp1369=) rs373835578 0.00003
NM_005921.2(MAP3K1):c.4128A>C (p.Leu1376=) rs113150610 0.00003
NM_012082.4(ZFPM2):c.1218C>T (p.Asp406=) rs377293678 0.00003
NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile) rs575054307 0.00003
NM_012082.4(ZFPM2):c.2700C>T (p.Ser900=) rs1181745433 0.00003
NM_012082.4(ZFPM2):c.3077C>T (p.Ala1026Val) rs779273741 0.00003
NM_012082.4(ZFPM2):c.421-10C>A rs761799802 0.00003
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala) rs777276628 0.00002
NM_005921.2(MAP3K1):c.1035+12C>T rs773590377 0.00002
NM_005921.2(MAP3K1):c.1605A>G (p.Gln535=) rs56232761 0.00002
NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln) rs1454725137 0.00002
NM_012082.4(ZFPM2):c.1866A>G (p.Gln622=) rs536037180 0.00002
NM_012082.4(ZFPM2):c.240G>T (p.Gly80=) rs765866053 0.00002
NM_000475.5(NR0B1):c.1209C>G (p.Leu403=) rs990602963 0.00001
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr) rs761762294 0.00001
NM_000475.5(NR0B1):c.90A>G (p.Pro30=) rs777399647 0.00001
NM_005921.2(MAP3K1):c.1015C>T (p.Arg339Trp) rs373572109 0.00001
NM_005921.2(MAP3K1):c.1613A>G (p.Asn538Ser) rs374113323 0.00001
NM_005921.2(MAP3K1):c.3828T>C (p.Tyr1276=) rs372801625 0.00001
NM_005921.2(MAP3K1):c.3957C>T (p.Tyr1319=) rs1478914246 0.00001
NM_005921.2(MAP3K1):c.4258-5T>C rs761483754 0.00001
NM_005921.2(MAP3K1):c.4304T>C (p.Val1435Ala) rs1356600233 0.00001
NM_005921.2(MAP3K1):c.597C>T (p.His199=) rs781610164 0.00001
NM_005921.2(MAP3K1):c.614G>A (p.Arg205Lys) rs768329767 0.00001
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.1851G>A (p.Glu617=) rs376766358 0.00001
NM_012082.4(ZFPM2):c.2532C>T (p.Thr844=) rs1391767231 0.00001
NM_012082.4(ZFPM2):c.2688G>A (p.Pro896=) rs1434631824 0.00001
NM_012082.4(ZFPM2):c.2718T>C (p.Asp906=) rs1456578169 0.00001
NM_012082.4(ZFPM2):c.302-5T>C rs763335389 0.00001
NM_012082.4(ZFPM2):c.3060C>T (p.Ser1020=) rs534751136 0.00001
NM_012082.4(ZFPM2):c.3231G>A (p.Ser1077=) rs775570126 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
NM_021044.4(DHH):c.174C>A (p.Gly58=) rs376829299 0.00001
NM_000475.5(NR0B1):c.1005C>T (p.Pro335=)
NM_000475.5(NR0B1):c.1020G>A (p.Gln340=)
NM_000475.5(NR0B1):c.1023C>T (p.His341=)
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
NM_000475.5(NR0B1):c.105G>A (p.Val35=)
NM_000475.5(NR0B1):c.1062C>A (p.Ser354=)
NM_000475.5(NR0B1):c.1062C>G (p.Ser354=)
NM_000475.5(NR0B1):c.1062C>T (p.Ser354=)
NM_000475.5(NR0B1):c.1065C>T (p.Ala355=)
NM_000475.5(NR0B1):c.1068C>T (p.Ser356=)
NM_000475.5(NR0B1):c.1119C>T (p.Ile373=)
NM_000475.5(NR0B1):c.1125C>T (p.Thr375=)
NM_000475.5(NR0B1):c.1151C>T (p.Thr384Ile)
NM_000475.5(NR0B1):c.1161T>C (p.Phe387=)
NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)
NM_000475.5(NR0B1):c.1168+13dup
NM_000475.5(NR0B1):c.1168+7G>T
NM_000475.5(NR0B1):c.1169-10C>T
NM_000475.5(NR0B1):c.1169-8C>A
NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)
NM_000475.5(NR0B1):c.1198A>G (p.Ile400Val)
NM_000475.5(NR0B1):c.1218A>G (p.Gly406=)
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)
NM_000475.5(NR0B1):c.1245C>A (p.Thr415=)
NM_000475.5(NR0B1):c.1245C>G (p.Thr415=)
NM_000475.5(NR0B1):c.1248G>A (p.Arg416=)
NM_000475.5(NR0B1):c.1254G>A (p.Thr418=)
NM_000475.5(NR0B1):c.1257C>T (p.His419=)
NM_000475.5(NR0B1):c.126G>C (p.Ser42=)
NM_000475.5(NR0B1):c.1279A>G (p.Ile427Val)
NM_000475.5(NR0B1):c.1281C>T (p.Ile427=)
NM_000475.5(NR0B1):c.1299T>C (p.Leu433=)
NM_000475.5(NR0B1):c.1308G>A (p.Leu436=) rs2147004349
NM_000475.5(NR0B1):c.1314C>T (p.Phe438=)
NM_000475.5(NR0B1):c.1323C>G (p.Ala441=)
NM_000475.5(NR0B1):c.1326T>C (p.Asn442=)
NM_000475.5(NR0B1):c.1398C>G (p.Leu466=)
NM_000475.5(NR0B1):c.144G>C (p.Gly48=)
NM_000475.5(NR0B1):c.151A>C (p.Arg51=)
NM_000475.5(NR0B1):c.159G>T (p.Gly53=)
NM_000475.5(NR0B1):c.160C>T (p.Leu54=)
NM_000475.5(NR0B1):c.162G>A (p.Leu54=)
NM_000475.5(NR0B1):c.162G>T (p.Leu54=)
NM_000475.5(NR0B1):c.171G>C (p.Gly57=)
NM_000475.5(NR0B1):c.18C>T (p.His6=)
NM_000475.5(NR0B1):c.192C>T (p.Tyr64=)
NM_000475.5(NR0B1):c.198C>T (p.Cys66=)
NM_000475.5(NR0B1):c.210T>C (p.Gly70=)
NM_000475.5(NR0B1):c.210T>G (p.Gly70=)
NM_000475.5(NR0B1):c.213A>G (p.Lys71=)
NM_000475.5(NR0B1):c.223C>A (p.Arg75=)
NM_000475.5(NR0B1):c.237C>A (p.Ile79=) rs2147007339
NM_000475.5(NR0B1):c.252G>C (p.Leu84=) rs1192762456
NM_000475.5(NR0B1):c.255G>T (p.Thr85=) rs759371222
NM_000475.5(NR0B1):c.276G>C (p.Ala92=)
NM_000475.5(NR0B1):c.276G>T (p.Ala92=)
NM_000475.5(NR0B1):c.279A>T (p.Ala93=)
NM_000475.5(NR0B1):c.281C>A (p.Pro94Gln)
NM_000475.5(NR0B1):c.291C>T (p.Pro97=)
NM_000475.5(NR0B1):c.300G>C (p.Thr100=)
NM_000475.5(NR0B1):c.30C>T (p.Gly10=)
NM_000475.5(NR0B1):c.318C>G (p.Gly106=)
NM_000475.5(NR0B1):c.324G>T (p.Ser108=)
NM_000475.5(NR0B1):c.339C>T (p.Pro113=)
NM_000475.5(NR0B1):c.33C>T (p.Ser11=)
NM_000475.5(NR0B1):c.357G>T (p.Gly119=)
NM_000475.5(NR0B1):c.360T>G (p.Leu120=)
NM_000475.5(NR0B1):c.363G>A (p.Pro121=)
NM_000475.5(NR0B1):c.366T>C (p.Gly122=)
NM_000475.5(NR0B1):c.367G>A (p.Gly123Arg)
NM_000475.5(NR0B1):c.369G>A (p.Gly123=)
NM_000475.5(NR0B1):c.375C>T (p.Pro125=)
NM_000475.5(NR0B1):c.381A>G (p.Ala127=)
NM_000475.5(NR0B1):c.405T>C (p.Cys135=)
NM_000475.5(NR0B1):c.414C>T (p.Asp138=)
NM_000475.5(NR0B1):c.420G>A (p.Pro140=)
NM_000475.5(NR0B1):c.432C>T (p.Ser144=)
NM_000475.5(NR0B1):c.444C>T (p.Ser148=)
NM_000475.5(NR0B1):c.44A>G (p.Asn15Ser)
NM_000475.5(NR0B1):c.471C>T (p.His157=)
NM_000475.5(NR0B1):c.480G>A (p.Pro160=)
NM_000475.5(NR0B1):c.489C>G (p.Pro163=)
NM_000475.5(NR0B1):c.507C>A (p.Gly169=)
NM_000475.5(NR0B1):c.508G>C (p.Ala170Pro)
NM_000475.5(NR0B1):c.510G>A (p.Ala170=)
NM_000475.5(NR0B1):c.51T>C (p.Leu17=)
NM_000475.5(NR0B1):c.525C>T (p.Ser175=)
NM_000475.5(NR0B1):c.555G>A (p.Glu185=)
NM_000475.5(NR0B1):c.559C>T (p.Leu187=)
NM_000475.5(NR0B1):c.579G>A (p.Thr193=)
NM_000475.5(NR0B1):c.582G>C (p.Ala194=) rs1275730944
NM_000475.5(NR0B1):c.582G>T (p.Ala194=)
NM_000475.5(NR0B1):c.585T>C (p.Leu195=)
NM_000475.5(NR0B1):c.603T>C (p.Phe201=)
NM_000475.5(NR0B1):c.624G>A (p.Gln208=)
NM_000475.5(NR0B1):c.642C>T (p.Tyr214=)
NM_000475.5(NR0B1):c.645C>T (p.Cys215=)
NM_000475.5(NR0B1):c.654G>A (p.Thr218=)
NM_000475.5(NR0B1):c.654G>C (p.Thr218=)
NM_000475.5(NR0B1):c.654G>T (p.Thr218=)
NM_000475.5(NR0B1):c.669G>T (p.Ala223=)
NM_000475.5(NR0B1):c.685G>A (p.Glu229Lys)
NM_000475.5(NR0B1):c.690G>C (p.Arg230=)
NM_000475.5(NR0B1):c.693G>A (p.Pro231=)
NM_000475.5(NR0B1):c.696G>A (p.Arg232=)
NM_000475.5(NR0B1):c.699C>T (p.Ala233=)
NM_000475.5(NR0B1):c.69G>A (p.Thr23=)
NM_000475.5(NR0B1):c.6G>A (p.Ala2=)
NM_000475.5(NR0B1):c.6G>C (p.Ala2=)
NM_000475.5(NR0B1):c.702C>T (p.Pro234=)
NM_000475.5(NR0B1):c.726G>A (p.Ala242=)
NM_000475.5(NR0B1):c.753A>G (p.Pro251=)
NM_000475.5(NR0B1):c.756G>A (p.Gln252=)
NM_000475.5(NR0B1):c.762C>T (p.Val254=)
NM_000475.5(NR0B1):c.774C>T (p.Ala258=)
NM_000475.5(NR0B1):c.777A>G (p.Ser259=)
NM_000475.5(NR0B1):c.780G>A (p.Ala260=)
NM_000475.5(NR0B1):c.801C>T (p.Arg267=)
NM_000475.5(NR0B1):c.804C>T (p.Phe268=)
NM_000475.5(NR0B1):c.828G>A (p.Gln276=)
NM_000475.5(NR0B1):c.858G>A (p.Leu286=)
NM_000475.5(NR0B1):c.885C>T (p.Leu295=)
NM_000475.5(NR0B1):c.891T>C (p.Leu297=)
NM_000475.5(NR0B1):c.897G>A (p.Leu299=)
NM_000475.5(NR0B1):c.900C>T (p.Ala300=)
NM_000475.5(NR0B1):c.912G>A (p.Leu304=)
NM_000475.5(NR0B1):c.936G>A (p.Ser312=)
NM_000475.5(NR0B1):c.939G>C (p.Glu313Asp)
NM_000475.5(NR0B1):c.966C>T (p.Thr322=)
NM_000475.5(NR0B1):c.969C>A (p.Thr323=)
NM_000475.5(NR0B1):c.9C>A (p.Gly3=)
NM_003140.3(SRY):c.339A>G (p.Ala113=) rs773247144
NM_005189.3(CBX2):c.332C>T (p.Ser111Phe)
NM_005921.2(MAP3K1):c.1524T>G (p.Pro508=)
NM_005921.2(MAP3K1):c.1599G>A (p.Arg533=)
NM_005921.2(MAP3K1):c.1687-17GT[2]
NM_005921.2(MAP3K1):c.1758T>A (p.Arg586=)
NM_005921.2(MAP3K1):c.1782C>G (p.Ala594=)
NM_005921.2(MAP3K1):c.1801G>A (p.Glu601Lys)
NM_005921.2(MAP3K1):c.1803G>A (p.Glu601=)
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg) rs143853590
NM_005921.2(MAP3K1):c.185T>G (p.Leu62Arg)
NM_005921.2(MAP3K1):c.1926C>A (p.Val642=) rs867527029
NM_005921.2(MAP3K1):c.2012C>T (p.Ala671Val)
NM_005921.2(MAP3K1):c.201T>C (p.Ser67=)
NM_005921.2(MAP3K1):c.2091C>T (p.Arg697=)
NM_005921.2(MAP3K1):c.2133A>G (p.Lys711=)
NM_005921.2(MAP3K1):c.2241A>G (p.Glu747=)
NM_005921.2(MAP3K1):c.2370-17A>G
NM_005921.2(MAP3K1):c.261C>G (p.Ser87=)
NM_005921.2(MAP3K1):c.2696A>G (p.Asn899Ser) rs142968004
NM_005921.2(MAP3K1):c.2824ACA[4] (p.Thr946_Thr949del) rs5868032
NM_005921.2(MAP3K1):c.2824ACA[9] (p.Thr949_Glu950insThr)
NM_005921.2(MAP3K1):c.3060A>G (p.Gln1020=)
NM_005921.2(MAP3K1):c.30G>T (p.Ser10=)
NM_005921.2(MAP3K1):c.3198C>G (p.Thr1066=) rs918712593
NM_005921.2(MAP3K1):c.347C>T (p.Ala116Val)
NM_005921.2(MAP3K1):c.3609C>T (p.Pro1203=) rs1554035881
NM_005921.2(MAP3K1):c.3667-4G>A rs552563402
NM_005921.2(MAP3K1):c.3774T>C (p.Tyr1258=)
NM_005921.2(MAP3K1):c.3819+9C>G
NM_005921.2(MAP3K1):c.3846T>G (p.Ser1282=) rs375842337
NM_005921.2(MAP3K1):c.4092A>G (p.Gln1364=)
NM_005921.2(MAP3K1):c.4114+10C>G
NM_005921.2(MAP3K1):c.429C>T (p.Pro143=) rs1211934332
NM_005921.2(MAP3K1):c.450C>T (p.Ala150=)
NM_005921.2(MAP3K1):c.786G>T (p.Val262=)
NM_005921.2(MAP3K1):c.835-11dup rs201780112
NM_005921.2(MAP3K1):c.89C>A (p.Ala30Asp) rs971549264
NM_005921.2(MAP3K1):c.916C>T (p.Arg306Cys)
NM_005921.2(MAP3K1):c.959A>G (p.Gln320Arg)
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.1254C>T (p.Ser418=)
NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys) rs569356297
NM_012082.4(ZFPM2):c.1492C>T (p.Leu498=)
NM_012082.4(ZFPM2):c.1494A>G (p.Leu498=) rs2131177786
NM_012082.4(ZFPM2):c.1620C>T (p.Tyr540=) rs1186450406
NM_012082.4(ZFPM2):c.1632G>T (p.Met544Ile) rs187043152
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.1731G>A (p.Gln577=)
NM_012082.4(ZFPM2):c.1894T>C (p.Leu632=) rs2131179002
NM_012082.4(ZFPM2):c.1947A>G (p.Gln649=)
NM_012082.4(ZFPM2):c.2286C>T (p.Asp762=)
NM_012082.4(ZFPM2):c.2328C>T (p.Pro776=)
NM_012082.4(ZFPM2):c.2355C>T (p.His785=)
NM_012082.4(ZFPM2):c.2373T>C (p.Phe791=)
NM_012082.4(ZFPM2):c.2487C>A (p.Pro829=)
NM_012082.4(ZFPM2):c.2562C>T (p.His854=)
NM_012082.4(ZFPM2):c.261G>A (p.Pro87=)
NM_012082.4(ZFPM2):c.261G>T (p.Pro87=) rs755810063
NM_012082.4(ZFPM2):c.2712C>T (p.Ser904=) rs2131181789
NM_012082.4(ZFPM2):c.2910A>T (p.Gly970=)
NM_012082.4(ZFPM2):c.2934C>T (p.Ala978=)
NM_012082.4(ZFPM2):c.3014A>G (p.Glu1005Gly)
NM_012082.4(ZFPM2):c.302-4G>A rs372818742
NM_012082.4(ZFPM2):c.3213C>T (p.Asp1071=)
NM_012082.4(ZFPM2):c.3303G>A (p.Leu1101=)
NM_012082.4(ZFPM2):c.3366G>C (p.Arg1122=)
NM_012082.4(ZFPM2):c.40+11G>C
NM_012082.4(ZFPM2):c.420+15C>T
NM_012082.4(ZFPM2):c.420+16G>A
NM_012082.4(ZFPM2):c.495G>A (p.Val165=)
NM_012082.4(ZFPM2):c.564C>T (p.Ala188=)
NM_012082.4(ZFPM2):c.78A>G (p.Glu26=)
NM_012082.4(ZFPM2):c.813C>T (p.Tyr271=)
NM_012082.4(ZFPM2):c.873C>A (p.Ala291=)
NM_012082.4(ZFPM2):c.90G>A (p.Glu30=)
NM_012082.4(ZFPM2):c.996T>C (p.Gly332=)
NM_021044.4(DHH):c.1182A>G (p.Leu394=)
NM_021044.4(DHH):c.303+10G>A rs372590251
NM_021044.4(DHH):c.303+17C>T
NM_021044.4(DHH):c.304-15T>C
NM_021044.4(DHH):c.304-17C>T
NM_021044.4(DHH):c.324C>T (p.Asn108=)
NM_021044.4(DHH):c.681G>T (p.Ala227=)
NM_021044.4(DHH):c.804G>A (p.Thr268=)
NM_021044.4(DHH):c.909C>T (p.Pro303=)

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