ClinVar Miner

List of variants in gene combination LHCGR, STON1-GTF2A1L reported by OMIM

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000233.4(LHCGR):c.1847C>A (p.Ser616Tyr) rs121912525 0.00005
NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter) rs121912523 0.00001
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) rs121912524 0.00001
NM_000233.4(LHCGR):c.1874T>A (p.Ile625Lys) rs121912530 0.00001
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.1103T>C (p.Leu368Pro) rs121912533
NM_000233.4(LHCGR):c.1118C>T (p.Ala373Val) rs121912528
NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr) rs121912526
NM_000233.4(LHCGR):c.1370T>G (p.Leu457Arg) rs121912535
NM_000233.4(LHCGR):c.1505T>C (p.Leu502Pro) rs121912538
NM_000233.4(LHCGR):c.1624A>C (p.Ile542Leu) rs121912531
NM_000233.4(LHCGR):c.1627T>C (p.Cys543Arg) rs121912537
NM_000233.4(LHCGR):c.1691A>G (p.Asp564Gly) rs121912540
NM_000233.4(LHCGR):c.1703C>T (p.Ala568Val) rs121912534
NM_000233.4(LHCGR):c.1713G>A (p.Met571Ile) rs121912519
NM_000233.4(LHCGR):c.1715C>T (p.Ala572Val) rs121912522
NM_000233.4(LHCGR):c.1730C>T (p.Thr577Ile) rs121912521
NM_000233.4(LHCGR):c.1732G>C (p.Asp578His) rs121912532
NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) rs121912518
NM_000233.4(LHCGR):c.1777G>C (p.Ala593Pro) rs121912520
NM_000233.4(LHCGR):c.1824_1829del (p.Val609_Leu610del) rs2104352652
NM_000233.4(LHCGR):c.391T>C (p.Cys131Arg) rs121912527
NM_000233.4(LHCGR):c.430G>T (p.Val144Phe) rs121912539
NM_000233.4(LHCGR):c.50_55dup (p.Leu17_Gln18dup) rs71245621
NM_000233.4(LHCGR):c.55_56insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln) rs71245621
NM_000233.4(LHCGR):c.866+1515_948-2168del

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