ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NM_000233.4(LHCGR):c.*22T>G
NM_000233.4(LHCGR):c.*281del rs558291070
NM_000233.4(LHCGR):c.*535G>A rs534109670
NM_000233.4(LHCGR):c.1010T>C (p.Leu337Ser) rs61996314
NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile) rs114320052
NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys) rs146785679
NM_000233.4(LHCGR):c.1875A>T (p.Ile625=) rs200691173
NM_000233.4(LHCGR):c.378A>C (p.Lys126Asn) rs373456950
NM_000233.4(LHCGR):c.430G>A (p.Val144Ile) rs121912539
NM_000233.4(LHCGR):c.458+3A>G rs76210637
NM_000233.4(LHCGR):c.610C>T (p.Leu204=) rs61996322
NM_000233.4(LHCGR):c.81G>A (p.Glu27=) rs527550554

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