ClinVar Miner

List of variants in gene FAM161A reported as pathogenic for retinitis pigmentosa

Included ClinVar conditions (157):
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter) rs777678022 0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_001201543.2(FAM161A):c.1321dup (p.His441fs) rs1316281505 0.00001
NM_001201543.2(FAM161A):c.1786C>T (p.Arg596Ter) rs267606793 0.00001
NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter) rs267606794 0.00001
NM_001201543.2(FAM161A):c.1044T>A (p.Tyr348Ter)
NM_001201543.2(FAM161A):c.1095T>G (p.Tyr365Ter) rs1253790930
NM_001201543.2(FAM161A):c.1138C>T (p.Arg380Ter)
NM_001201543.2(FAM161A):c.1205C>G (p.Ser402Ter) rs1553354522
NM_001201543.2(FAM161A):c.1212T>A (p.Cys404Ter) rs4672457
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter) rs761440783
NM_001201543.2(FAM161A):c.1490C>G (p.Ser497Ter) rs2105080547
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001201543.2(FAM161A):c.1702_1703del (p.Ser568fs) rs928348793
NM_001201543.2(FAM161A):c.1852-2A>T rs1672402787
NM_001201543.2(FAM161A):c.678_681del (p.Lys227fs) rs1553354861
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284
NM_001201543.2(FAM161A):c.943A>T (p.Lys315Ter) rs1572879569

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