ClinVar Miner

List of variants reported as uncertain significance for 46,XY partial gonadal dysgenesis by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu) rs200671886 0.00034
NM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn) rs201707218 0.00029
NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile) rs201729935 0.00024
NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala) rs199535268 0.00015
NM_012082.4(ZFPM2):c.442A>G (p.Met148Val) rs370456245 0.00011
NM_012082.4(ZFPM2):c.74A>G (p.Glu25Gly) rs371244942 0.00009
NM_005921.2(MAP3K1):c.1510G>A (p.Glu504Lys) rs764525244 0.00008
NM_012082.4(ZFPM2):c.2206C>T (p.Arg736Cys) rs371546027 0.00008
NM_005921.2(MAP3K1):c.3242T>A (p.Met1081Lys) rs754640057 0.00006
NM_012082.4(ZFPM2):c.2593A>G (p.Lys865Glu) rs367893066 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_005921.2(MAP3K1):c.3266C>G (p.Ser1089Cys) rs755658722 0.00004
NM_012082.4(ZFPM2):c.2633C>T (p.Pro878Leu) rs753602172 0.00004
NM_005921.2(MAP3K1):c.163G>A (p.Ala55Thr) rs769918068 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.1721G>A (p.Arg574Gln) rs773843701 0.00003
NM_012082.4(ZFPM2):c.2534C>T (p.Thr845Met) rs530517993 0.00003
NM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn) rs201644250 0.00003
NM_012082.4(ZFPM2):c.421-10C>A rs761799802 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.1866A>G (p.Gln622=) rs536037180 0.00002
NM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile) rs756076552 0.00002
NM_012082.4(ZFPM2):c.2300A>G (p.Asn767Ser) rs374095734 0.00002
NM_012082.4(ZFPM2):c.2393A>G (p.His798Arg) rs544936088 0.00002
NM_012082.4(ZFPM2):c.2651G>A (p.Arg884His) rs747995106 0.00002
NM_012082.4(ZFPM2):c.2759G>A (p.Gly920Glu) rs747010827 0.00002
NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn) rs1213986618 0.00001
NM_005921.2(MAP3K1):c.4258-5T>C rs761483754 0.00001
NM_005921.2(MAP3K1):c.614G>A (p.Arg205Lys) rs768329767 0.00001
NM_012082.4(ZFPM2):c.1693G>T (p.Val565Leu) rs768944942 0.00001
NM_012082.4(ZFPM2):c.2119C>G (p.Gln707Glu) rs765282505 0.00001
NM_012082.4(ZFPM2):c.2650C>T (p.Arg884Cys) rs778808844 0.00001
NM_012082.4(ZFPM2):c.2903A>G (p.Tyr968Cys) rs908430101 0.00001
NM_012082.4(ZFPM2):c.2930G>A (p.Gly977Glu) rs759084301 0.00001
NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser) rs779361639 0.00001
NC_000008.10:g.(?_106331170)_(106674812_?)dup
NC_000023.11:g.(?_30304559)_(30309383_?)dup
NM_000475.5(NR0B1):c.1022A>G (p.His341Arg)
NM_000475.5(NR0B1):c.1103G>T (p.Cys368Phe)
NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg)
NM_000475.5(NR0B1):c.1354A>G (p.Ile452Val)
NM_000475.5(NR0B1):c.194G>T (p.Arg65Leu) rs1926600775
NM_000475.5(NR0B1):c.227A>G (p.Gln76Arg)
NM_000475.5(NR0B1):c.229G>C (p.Gly77Arg)
NM_000475.5(NR0B1):c.308C>G (p.Pro103Arg)
NM_000475.5(NR0B1):c.389A>G (p.Tyr130Cys)
NM_000475.5(NR0B1):c.395G>A (p.Cys132Tyr)
NM_000475.5(NR0B1):c.447G>C (p.Leu149Phe)
NM_000475.5(NR0B1):c.521G>C (p.Arg174Pro)
NM_000475.5(NR0B1):c.536A>T (p.Gln179Leu)
NM_000475.5(NR0B1):c.563C>T (p.Pro188Leu)
NM_000475.5(NR0B1):c.568G>C (p.Gly190Arg)
NM_000475.5(NR0B1):c.607G>A (p.Gly203Ser)
NM_000475.5(NR0B1):c.667G>A (p.Ala223Thr)
NM_000475.5(NR0B1):c.698C>T (p.Ala233Val)
NM_000475.5(NR0B1):c.740C>A (p.Ala247Glu)
NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg) rs1926571373
NM_000475.5(NR0B1):c.806T>G (p.Val269Gly) rs1555973045
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val)
NM_000475.5(NR0B1):c.8_9delinsAA (p.Gly3Glu)
NM_000475.5(NR0B1):c.981G>C (p.Glu327Asp)
NM_000475.5(NR0B1):c.989G>A (p.Gly330Asp)
NM_004959.5(NR5A1):c.236_238del (p.Arg79del) rs1554721859
NM_005921.2(MAP3K1):c.1136C>T (p.Thr379Ile) rs1747647344
NM_005921.2(MAP3K1):c.138G>T (p.Glu46Asp)
NM_005921.2(MAP3K1):c.13G>C (p.Ala5Pro)
NM_005921.2(MAP3K1):c.1558C>G (p.Gln520Glu) rs1579768504
NM_005921.2(MAP3K1):c.161G>A (p.Arg54Gln)
NM_005921.2(MAP3K1):c.1631A>T (p.Tyr544Phe)
NM_005921.2(MAP3K1):c.170GGC[5] (p.Arg60dup) rs746070735
NM_005921.2(MAP3K1):c.1913T>G (p.Val638Gly)
NM_005921.2(MAP3K1):c.1970C>G (p.Thr657Arg) rs1579775153
NM_005921.2(MAP3K1):c.1985T>C (p.Leu662Pro)
NM_005921.2(MAP3K1):c.2022C>G (p.Ile674Met)
NM_005921.2(MAP3K1):c.2072G>A (p.Cys691Tyr) rs1554035463
NM_005921.2(MAP3K1):c.2420A>G (p.Asn807Ser)
NM_005921.2(MAP3K1):c.2539A>G (p.Thr847Ala)
NM_005921.2(MAP3K1):c.2702C>G (p.Ser901Cys)
NM_005921.2(MAP3K1):c.2782_2784del (p.Ser928del) rs1748225593
NM_005921.2(MAP3K1):c.2824ACA[10] (p.Thr948_Thr949dup) rs5868032
NM_005921.2(MAP3K1):c.311G>A (p.Gly104Asp)
NM_005921.2(MAP3K1):c.3133G>C (p.Val1045Leu)
NM_005921.2(MAP3K1):c.3212G>T (p.Ser1071Ile)
NM_005921.2(MAP3K1):c.3275A>G (p.Asp1092Gly)
NM_005921.2(MAP3K1):c.331C>T (p.Pro111Ser)
NM_005921.2(MAP3K1):c.3416C>T (p.Ser1139Phe)
NM_005921.2(MAP3K1):c.3608C>G (p.Pro1203Arg)
NM_005921.2(MAP3K1):c.361G>A (p.Gly121Ser)
NM_005921.2(MAP3K1):c.3743A>G (p.Gln1248Arg)
NM_005921.2(MAP3K1):c.4318A>G (p.Ile1440Val)
NM_005921.2(MAP3K1):c.4327G>A (p.Ala1443Thr) rs559360433
NM_005921.2(MAP3K1):c.4415C>T (p.Ser1472Leu) rs776167103
NM_005921.2(MAP3K1):c.4445G>A (p.Arg1482Gln)
NM_005921.2(MAP3K1):c.458C>T (p.Pro153Leu) rs576080629
NM_005921.2(MAP3K1):c.499A>G (p.Lys167Glu)
NM_005921.2(MAP3K1):c.536G>A (p.Arg179His)
NM_005921.2(MAP3K1):c.5CGG[6] (p.Ala5_Gly6insAlaAla)
NM_005921.2(MAP3K1):c.86G>A (p.Gly29Glu) rs1581198964
NM_012082.4(ZFPM2):c.1183A>G (p.Ser395Gly)
NM_012082.4(ZFPM2):c.1186G>A (p.Asp396Asn)
NM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro) rs1586283411
NM_012082.4(ZFPM2):c.1349C>T (p.Thr450Met)
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.1592G>A (p.Gly531Asp)
NM_012082.4(ZFPM2):c.1639G>A (p.Gly547Arg) rs1409008207
NM_012082.4(ZFPM2):c.1727A>G (p.Gln576Arg)
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.2096A>C (p.His699Pro) rs368486644
NM_012082.4(ZFPM2):c.2146C>T (p.Pro716Ser) rs1554583195
NM_012082.4(ZFPM2):c.2147C>A (p.Pro716His)
NM_012082.4(ZFPM2):c.2207G>A (p.Arg736His)
NM_012082.4(ZFPM2):c.2230A>T (p.Met744Leu) rs757882709
NM_012082.4(ZFPM2):c.2295C>A (p.Asn765Lys) rs2131180275
NM_012082.4(ZFPM2):c.2311A>G (p.Thr771Ala)
NM_012082.4(ZFPM2):c.2384T>C (p.Val795Ala) rs1563574497
NM_012082.4(ZFPM2):c.2411C>T (p.Thr804Met)
NM_012082.4(ZFPM2):c.241G>A (p.Asp81Asn)
NM_012082.4(ZFPM2):c.2493T>G (p.Asp831Glu)
NM_012082.4(ZFPM2):c.2545A>G (p.Arg849Gly) rs2131181158
NM_012082.4(ZFPM2):c.2673C>G (p.Asp891Glu)
NM_012082.4(ZFPM2):c.2762A>G (p.Asn921Ser) rs771987459
NM_012082.4(ZFPM2):c.3037G>C (p.Glu1013Gln)
NM_012082.4(ZFPM2):c.3090T>G (p.Asp1030Glu)
NM_012082.4(ZFPM2):c.3124G>T (p.Val1042Leu)
NM_012082.4(ZFPM2):c.3161C>T (p.Pro1054Leu) rs1814096724
NM_012082.4(ZFPM2):c.3218A>T (p.His1073Leu)
NM_012082.4(ZFPM2):c.322A>G (p.Lys108Glu) rs1815131947
NM_012082.4(ZFPM2):c.3262G>A (p.Glu1088Lys)
NM_012082.4(ZFPM2):c.3294G>C (p.Glu1098Asp) rs149688628
NM_012082.4(ZFPM2):c.3298C>G (p.Gln1100Glu)
NM_012082.4(ZFPM2):c.3326A>T (p.Asn1109Ile)
NM_012082.4(ZFPM2):c.3334A>G (p.Ser1112Gly) rs1554583419
NM_012082.4(ZFPM2):c.3418T>G (p.Phe1140Val)
NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu) rs772114579
NM_012082.4(ZFPM2):c.477T>A (p.Asp159Glu)
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.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.898_900dup (p.Phe300_Pro301insPhe)
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.991C>T (p.Pro331Ser)

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