ClinVar Miner

List of variants reported as pathogenic for Leydig cell hypoplasia, type 1 by OMIM

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Total variants: 10
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HGVS dbSNP
LHCGR, 33-BP INS, NT54
LHCGR, 6-BP DEL, NT1822
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.430G>T (p.Val144Phe) rs121912539

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