ClinVar Miner

List of variants reported as pathogenic for 46,XY complete gonadal dysgenesis by OMIM

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_003140.3(SRY):c.53G>A (p.Ser18Asn) rs104894971 0.00004
NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln) rs200834568 0.00003
NM_003140.3(SRY):c.270C>G (p.Ile90Met) rs104894959 0.00001
NM_021044.4(DHH):c.485T>C (p.Leu162Pro) rs111033589 0.00001
NM_032656.4(DHX37):c.923G>A (p.Arg308Gln) rs1384892917 0.00001
NC_000017.10:g.(69472000_?)_(?_69712000)del
NC_000017.11:g.(?_71475000)_(71611000_?)del
NC_000017.11:g.71412006_71988969delinsTACCTTTTATT
NC_000023.11:g.(?_30304206_30309390_?)dup
NM_001393392.1(AKR1C2):c.235A>G (p.Ile79Val) rs387906750
NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln) rs797044460
NM_001393392.1(AKR1C2):c.666T>G (p.His222Gln) rs13222
NM_001393392.1(AKR1C2):c.899A>C (p.Asn300Thr) rs387906751
NM_003140.3(SRY):c.12T>A (p.Tyr4Ter) rs104894975
NM_003140.3(SRY):c.178G>C (p.Val60Leu) rs104894957
NM_003140.3(SRY):c.192G>A (p.Met64Ile) rs104894969
NM_003140.3(SRY):c.203T>C (p.Ile68Thr) rs104894968
NM_003140.3(SRY):c.209G>A (p.Trp70Ter) rs104894965
NM_003140.3(SRY):c.274A>T (p.Lys92Ter) rs104894970
NM_003140.3(SRY):c.277C>T (p.Gln93Ter) rs104894958
NM_003140.3(SRY):c.283G>C (p.Gly95Arg) rs104894974
NM_003140.3(SRY):c.284G>A (p.Gly95Glu) rs104894972
NM_003140.3(SRY):c.317A>T (p.Lys106Ile) rs104894964
NM_003140.3(SRY):c.320G>A (p.Trp107Ter) rs104894967
NM_003140.3(SRY):c.324del (p.Phe109fs) rs606231179
NM_003140.3(SRY):c.326T>C (p.Phe109Ser) rs104894956
NM_003140.3(SRY):c.337G>A (p.Ala113Thr) rs104894966
NM_003140.3(SRY):c.364_367del (p.Glu122fs) rs606231178
NM_003140.3(SRY):c.380A>T (p.Tyr127Phe) rs104894973
NM_003140.3(SRY):c.397C>T (p.Arg133Trp) rs104894976
NM_003140.3(SRY):c.4C>T (p.Gln2Ter) rs104894977
NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu) rs121918654
NM_004959.5(NR5A1):c.1058_1065del (p.Glu353fs)
NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln) rs104894120
NM_004959.5(NR5A1):c.18del (p.Asp6fs) rs606231205
NM_004959.5(NR5A1):c.234G>A (p.Met78Ile) rs104894125
NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser) rs104894126
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) rs104894119
NM_004959.5(NR5A1):c.390del (p.Pro131fs) rs606231207
NM_004959.5(NR5A1):c.3G>A (p.Met1Ile) rs121918656
NM_004959.5(NR5A1):c.43G>A (p.Val15Met) rs104894124
NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter) rs104894123
NM_004959.5(NR5A1):c.666del (p.Asn222fs) rs606231206
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn) rs121918655
NM_005189.3(CBX2):c.1328G>C (p.Arg443Pro) rs121908256
NM_005189.3(CBX2):c.293C>T (p.Pro98Leu) rs121908255
NM_005921.2(MAP3K1):c.1760T>A (p.Leu587His) rs1131692186
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg) rs143853590
NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln) rs387906788
NM_005921.2(MAP3K1):c.566T>C (p.Leu189Pro) rs387906788
NM_005921.2(MAP3K1):c.566T>G (p.Leu189Arg) rs387906788
NM_005921.2(MAP3K1):c.634-8T>A rs1131692053
NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg) rs606231252
NM_021044.4(DHH):c.1086del (p.Leu363fs) rs1592184934
NM_021044.4(DHH):c.2T>C (p.Met1Thr) rs104894346
NM_021044.4(DHH):c.304-572_492dup
NM_021044.4(DHH):c.371G>A (p.Arg124Gln) rs1565573892
NM_021044.4(DHH):c.519G>T (p.Trp173Cys) rs1939296210
NM_021044.4(DHH):c.554C>A (p.Ser185Ter) rs1939295073
NM_032656.4(DHX37):c.1784C>T (p.Ser595Phe) rs1954346640
NM_032656.4(DHX37):c.2020C>T (p.Arg674Trp) rs1954336272
NM_032656.4(DHX37):c.2021G>A (p.Arg674Gln) rs1954336215
NM_032656.4(DHX37):c.911C>T (p.Thr304Met) rs1954619788

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