ClinVar Miner

List of variants studied for Leydig cell agenesis; Gonadotropin-independent familial sexual precocity

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000233.4(LHCGR):c.383+2T>C rs200639521 0.00006
NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys) rs146785679 0.00005
NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter) rs121912523 0.00001
NM_000233.4(LHCGR):c.1732G>A (p.Asp578Asn)
NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) rs121912518
NM_000233.4(LHCGR):c.1764dup (p.Ala589fs)
NM_000233.4(LHCGR):c.1786del (p.Val596fs)
NM_000233.4(LHCGR):c.26_43dup (p.Leu14_Leu15insGlnLeuLeuLysLeuLeu) rs1164921895
NM_000233.4(LHCGR):c.866+1G>C

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