ClinVar Miner

List of variants studied for 46,XY disorder of sex development by 3billion

Included ClinVar conditions (44):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967 0.00009
NM_000044.6(AR):c.2668G>A (p.Val890Met) rs886041133 0.00001
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077 0.00001
NM_000044.6(AR):c.1181_1200dup (p.Ala401fs)
NM_000044.6(AR):c.1693G>C (p.Asp565His)
NM_000044.6(AR):c.1762G>C (p.Ala588Pro) rs1034866440
NM_000044.6(AR):c.1768+1G>A rs2147436755
NM_000044.6(AR):c.1846C>T (p.Arg616Cys) rs1555990485
NM_000044.6(AR):c.1933G>T (p.Glu645Ter)
NM_000044.6(AR):c.2047C>T (p.Pro683Ser) rs2076094025
NM_000044.6(AR):c.2078A>T (p.Asn693Ile) rs2147524940
NM_000044.6(AR):c.2522G>A (p.Arg841His) rs9332969
NM_000044.6(AR):c.2710G>T (p.Val904Leu) rs2147540656
NM_000044.6(AR):c.667G>A (p.Asp223Asn) rs1036966197
NM_000197.2(HSD17B3):c.257_265del (p.Glu86_Ile88del)
NM_000197.2(HSD17B3):c.376G>A (p.Gly126Arg)
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_001308093.3(GATA4):c.962G>A (p.Arg321Gln) rs2130338262
NM_004959.5(NR5A1):c.1138+5G>A rs1832300085
NM_004959.5(NR5A1):c.11C>A (p.Ser4Ter) rs145936761
NM_004959.5(NR5A1):c.15C>A (p.Tyr5Ter)
NM_004959.5(NR5A1):c.164G>A (p.Cys55Tyr)
NM_004959.5(NR5A1):c.259C>T (p.Arg87Cys) rs866712684
NM_004959.5(NR5A1):c.284T>C (p.Phe95Ser) rs2131287358
NM_004959.5(NR5A1):c.721C>T (p.Arg241Trp) rs1832445795
NM_004959.5(NR5A1):c.89G>A (p.Cys30Tyr) rs2131289962

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