ClinVar Miner

List of variants reported as likely pathogenic for 46,XY partial gonadal dysgenesis

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg) rs199761861 0.00016
NM_004959.5(NR5A1):c.250C>T (p.Arg84Cys) rs1832458239 0.00001
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) rs56160159 0.00001
NC_000009.12:g.(?_124482420)_(124482928_?)del
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.1168+1_1168+20del rs1555972943
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) rs1569268070
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_001308093.3(GATA4):c.799C>T (p.Arg267Ter)
NM_001308093.3(GATA4):c.851G>A (p.Arg284His) rs180765750
NM_001308093.3(GATA4):c.962G>A (p.Arg321Gln) rs2130338262
NM_004959.5(NR5A1):c.1073T>C (p.Leu358Pro) rs2131277648
NM_004959.5(NR5A1):c.1090G>T (p.Asp364Tyr) rs2131277629
NM_004959.5(NR5A1):c.140A>G (p.Tyr47Cys) rs2131289790
NM_004959.5(NR5A1):c.15C>A (p.Tyr5Ter)
NM_004959.5(NR5A1):c.251G>A (p.Arg84His) rs375469069
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.44T>C (p.Val15Ala) rs2131290009
NM_004959.5(NR5A1):c.455_536del (p.Leu152fs) rs1588621944
NM_004959.5(NR5A1):c.61T>G (p.Ser21Ala)
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu) rs1554721235
NM_004959.5(NR5A1):c.97T>C (p.Cys33Arg) rs1832496590
NM_004959.5(NR5A1):c.990G>A (p.Glu330=) rs1588618614
NM_005633.4(SOS1):c.406T>C (p.Tyr136His) rs1671229414
NM_005921.2(MAP3K1):c.1923G>A (p.Met641Ile) rs886041049
NM_005921.2(MAP3K1):c.3964T>G (p.Phe1322Val)
NM_005921.2(MAP3K1):c.556A>G (p.Arg186Gly) rs1579750361
NM_012082.4(ZFPM2):c.192T>G (p.Cys64Trp) rs1404513559
NM_021951.3(DMRT1):c.332G>T (p.Arg111Met) rs1057519638

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