ClinVar Miner

List of variants in gene combination LHCGR, STON1-GTF2A1L reported as pathogenic for Leydig cell hypoplasia, type 1

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Total variants: 11
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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.1635C>A (p.Cys545Ter) rs121912523
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) rs121912524
NM_000233.4(LHCGR):c.1777G>C (p.Ala593Pro) rs121912520
NM_000233.4(LHCGR):c.1869T>G (p.Tyr623Ter) rs144859947
NM_000233.4(LHCGR):c.370C>T (p.Arg124Ter) rs773279269
NM_000233.4(LHCGR):c.430G>T (p.Val144Phe) rs121912539
NM_000233.4(LHCGR):c.442G>T (p.Glu148Ter) rs140568136

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