ClinVar Miner

List of variants in gene combination LHCGR, STON1-GTF2A1L studied for LHCGR-related disorder

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000233.4(LHCGR):c.610C>T (p.Leu204=) rs61996322 0.01070
NM_000233.4(LHCGR):c.606-5C>T rs78135094 0.00283
NM_000233.4(LHCGR):c.568C>A (p.Gln190Lys) rs61996318 0.00163
NM_000233.4(LHCGR):c.161+9A>G rs573699597 0.00031
NM_000233.4(LHCGR):c.426G>A (p.Thr142=) rs142554296 0.00019
NM_000233.4(LHCGR):c.54G>A (p.Gln18=) rs780848944 0.00013
NM_000233.4(LHCGR):c.605+8T>C rs1553392347 0.00002
NM_000233.4(LHCGR):c.29T>C (p.Leu10Pro) rs917607255 0.00001
NM_000233.4(LHCGR):c.1624A>C (p.Ile542Leu) rs121912531
NM_000233.4(LHCGR):c.32T>C (p.Leu11Pro) rs755654915
NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn) rs140691492
NM_000233.4(LHCGR):c.370C>T (p.Arg124Ter) rs773279269
NM_000233.4(LHCGR):c.79G>C (p.Glu27Gln)
NM_000233.4(LHCGR):c.929A>C (p.Lys310Thr)

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