ClinVar Miner

List of variants studied for Leydig cell hypoplasia by OMIM

Included ClinVar conditions (3):
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000894.3(LHB):c.167G>A (p.Gly56Asp) rs121912517 0.00005
NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter) rs121912523 0.00001
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) rs121912524 0.00001
NM_000233.4(LHCGR):c.1027T>A (p.Cys343Ser) rs121912536
NM_000233.4(LHCGR):c.1060G>A (p.Glu354Lys) rs121912529
NM_000233.4(LHCGR):c.1505T>C (p.Leu502Pro) rs121912538
NM_000233.4(LHCGR):c.1627T>C (p.Cys543Arg) rs121912537
NM_000233.4(LHCGR):c.1777G>C (p.Ala593Pro) rs121912520
NM_000233.4(LHCGR):c.1824_1829del (p.Val609_Leu610del) rs2104352652
NM_000233.4(LHCGR):c.430G>T (p.Val144Phe) rs121912539
NM_000233.4(LHCGR):c.55_56insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln) rs71245621
NM_000894.3(LHB):c.183+1G>C rs786204822
NM_000894.3(LHB):c.183+1G>T rs786204822
NM_000894.3(LHB):c.221A>G (p.Gln74Arg) rs5030773
NM_000894.3(LHB):c.28_39del (p.Leu10_Leu13del) rs769066903
NM_000894.3(LHB):c.88_96del (p.His30_Ile32del) rs786204823

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