ClinVar Miner

List of variants in gene combination LHCGR, STON1-GTF2A1L reported as pathogenic for not provided

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Total variants: 17
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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.1111_1112dup (p.Leu372fs)
NM_000233.4(LHCGR):c.1435C>T (p.Arg479Ter)
NM_000233.4(LHCGR):c.1624A>C (p.Ile542Leu) rs121912531
NM_000233.4(LHCGR):c.1691A>G (p.Asp564Gly) rs121912540
NM_000233.4(LHCGR):c.1691A>T (p.Asp564Val) rs121912540
NM_000233.4(LHCGR):c.1713G>T (p.Met571Ile) rs121912519
NM_000233.4(LHCGR):c.1723A>C (p.Ile575Leu) rs767343825
NM_000233.4(LHCGR):c.1730C>T (p.Thr577Ile) rs121912521
NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) rs121912518
NM_000233.4(LHCGR):c.220G>T (p.Glu74Ter)
NM_000233.4(LHCGR):c.35_36insCA (p.Lys12fs) rs2103767948
NM_000233.4(LHCGR):c.370C>T (p.Arg124Ter) rs773279269
NM_000233.4(LHCGR):c.55_56insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln) rs71245621
NM_000233.4(LHCGR):c.562G>T (p.Glu188Ter)

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