ClinVar Miner

List of variants studied for indeterminate sex and/or pseudohermaphroditism

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000479.5(AMH):c.1239T>A (p.Gly413=) rs7252789 0.88393
NM_000479.5(AMH):c.146G>T (p.Ser49Ile) rs10407022 0.74147
NM_020547.3(AMHR2):c.622-6C>T rs2071558 0.16377
NM_000479.5(AMH):c.974A>G (p.Gln325Arg) rs140765565 0.00966
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_000479.5(AMH):c.802A>G (p.Thr268Ala) rs201324658 0.00034
NM_000479.5(AMH):c.808C>T (p.Pro270Ser) rs757506343 0.00031
NM_000479.5(AMH):c.295A>T (p.Thr99Ser) rs200226465 0.00029
NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln) rs119481075 0.00009
NM_000197.2(HSD17B3):c.845C>T (p.Pro282Leu) rs144809928 0.00005
NM_000197.2(HSD17B3):c.278-1G>C rs149607031 0.00004
NM_000197.2(HSD17B3):c.614T>A (p.Val205Glu) rs372027264 0.00004
NM_000197.2(HSD17B3):c.397G>A (p.Gly133Arg) rs747724352 0.00002
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077 0.00001
NM_000479.5(AMH):c.151del (p.Gln51fs) rs1443929462 0.00001
NM_000479.5(AMH):c.649C>T (p.Gln217Ter) rs1183532981 0.00001
NM_020547.3(AMHR2):c.1217G>A (p.Arg406Gln) rs137853104 0.00001
NM_020547.3(AMHR2):c.1483C>T (p.Arg495Trp) rs749715622 0.00001
NM_020547.3(AMHR2):c.64C>T (p.Arg22Ter) rs755196112 0.00001
NM_020547.3(AMHR2):c.994C>T (p.Arg332Ter) rs781745214 0.00001
NM_000197.2(HSD17B3):c.121_122del (p.Lys41fs) rs1554705693
NM_000197.2(HSD17B3):c.383T>C (p.Leu128Ser) rs767765046
NM_000197.2(HSD17B3):c.414_416del (p.Leu139del) rs1554694678
NM_000197.2(HSD17B3):c.454-1G>A rs1554694264
NM_000197.2(HSD17B3):c.578C>A (p.Pro193His) rs773720185
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val) rs119481076
NM_000233.4(LHCGR):c.580T>G (p.Phe194Val) rs750481017
NM_000479.5(AMH):c.1015dup (p.Leu339fs)
NM_000479.5(AMH):c.1047_1056dup (p.Thr353fs)
NM_000479.5(AMH):c.1144G>T (p.Glu382Ter) rs267606654
NM_000479.5(AMH):c.1165G>T (p.Glu389Ter)
NM_000479.5(AMH):c.118C>T (p.Arg40Ter)
NM_000479.5(AMH):c.1193C>T (p.Pro398Leu) rs368933314
NM_000479.5(AMH):c.1211T>C (p.Leu404Pro)
NM_000479.5(AMH):c.1397_1419dup (p.Glu474delinsSerSerAlaTer) rs397518444
NM_000479.5(AMH):c.1683A>T (p.Ter561Cys)
NM_000479.5(AMH):c.209del (p.Leu70fs)
NM_000479.5(AMH):c.258C>T (p.Ala86=)
NM_000479.5(AMH):c.301G>A (p.Gly101Arg)
NM_000479.5(AMH):c.343_344del (p.Leu115fs)
NM_000479.5(AMH):c.472_485del (p.Pro158fs) rs774592796
NM_000479.5(AMH):c.563G>A (p.Cys188Tyr) rs2025018868
NM_000479.5(AMH):c.571C>T (p.Arg191Ter) rs104894666
NM_000479.5(AMH):c.864C>G (p.Asp288Glu) rs199831511
NM_020547.3(AMHR2):c.1175dup (p.Leu392fs)
NM_020547.3(AMHR2):c.1332_1358del (p.Gly445_Leu453del) rs764761319
NM_020547.3(AMHR2):c.1340C>T (p.Thr447Ile)
NM_020547.3(AMHR2):c.1510C>T (p.Arg504Cys)
NM_020547.3(AMHR2):c.160C>T (p.Arg54Cys)
NM_020547.3(AMHR2):c.229C>T (p.Gln77Ter)
NM_020547.3(AMHR2):c.232+1G>A rs763798144
NM_020547.3(AMHR2):c.238C>T (p.Arg80Ter)
NM_020547.3(AMHR2):c.289C>T (p.Arg97Ter)
NM_020547.3(AMHR2):c.402_422delinsAGGTAGCCACCCA (p.Gln135fs)
NM_020547.3(AMHR2):c.43del (p.Val15fs) rs2136938115
NM_020547.3(AMHR2):c.514C>T (p.Arg172Ter)
NM_020547.3(AMHR2):c.596del (p.Glu199fs) rs1939497801
NM_020547.3(AMHR2):c.622-47C>T
NM_020547.3(AMHR2):c.649del (p.Val217fs) rs1252019616
NM_020547.3(AMHR2):c.78del (p.Phe27fs)

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