ClinVar Miner

List of variants reported for Retinitis pigmentosa 28 by Fulgent Genetics, Fulgent Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569 0.00389
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.1759G>A (p.Glu587Lys) rs868226745 0.00004
NM_001201543.2(FAM161A):c.1004G>A (p.Arg335Gln) rs755314585 0.00002
NM_001201543.2(FAM161A):c.1804G>A (p.Glu602Lys) rs769359884 0.00001
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001201543.2(FAM161A):c.1484G>A (p.Arg495His) rs201998260
NM_001201543.2(FAM161A):c.1490C>G (p.Ser497Ter) rs2105080547
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284

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