ClinVar Miner

List of variants in gene FAM161A studied for Retinal dystrophy

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=) rs4672457 0.98181
NM_001201543.2(FAM161A):c.706A>G (p.Ile236Val) rs17513722 0.17102
NM_001201543.2(FAM161A):c.321A>G (p.Ile107Met) rs11125895 0.16195
NM_001201543.2(FAM161A):c.1665G>A (p.Leu555=) rs6545910 0.10308
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_001201543.2(FAM161A):c.717G>A (p.Pro239=) rs377016856 0.00018
NM_001201543.2(FAM161A):c.1391A>G (p.His464Arg) rs201315315 0.00014
NM_001201543.2(FAM161A):c.2065G>T (p.Asp689Tyr) rs191862300 0.00014
NM_001201543.2(FAM161A):c.916C>T (p.Arg306Trp) rs183615774 0.00009
NM_001201543.2(FAM161A):c.1628G>A (p.Arg543Gln) rs374748539 0.00005
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_001201543.2(FAM161A):c.1095T>C (p.Tyr365=) rs1253790930 0.00001
NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter) rs267606794 0.00001
NM_001201543.2(FAM161A):c.1113C>G (p.Asp371Glu)
NM_001201543.2(FAM161A):c.1197T>C (p.Pro399=)
NM_001201543.2(FAM161A):c.1214G>C (p.Gly405Ala)
NM_001201543.2(FAM161A):c.1248A>G (p.Val416=) rs2105081186
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001201543.2(FAM161A):c.1405del (p.Arg469fs)
NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter) rs761440783
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001201543.2(FAM161A):c.721C>T (p.Pro241Ser) rs531709417
NM_001201543.2(FAM161A):c.804G>A (p.Ala268=) rs765487110
NM_001201543.2(FAM161A):c.880C>T (p.Pro294Ser)
NM_001201543.2(FAM161A):c.908A>G (p.Lys303Arg)

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