ClinVar Miner

List of variants in gene PRPF3 studied for Retinitis pigmentosa

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_004698.4(PRPF3):c.378C>T (p.Ile126=) rs59082627 0.03658
NM_004698.4(PRPF3):c.*228A>G rs41300863 0.03569
NM_004698.4(PRPF3):c.1760-12C>T rs116427288 0.02182
NM_004698.4(PRPF3):c.1923G>A (p.Arg641=) rs79516325 0.02181
NM_004698.4(PRPF3):c.*42C>T rs77626125 0.02175
NM_004698.4(PRPF3):c.*149C>G rs181436852 0.00156
NM_004698.4(PRPF3):c.2004C>T (p.His668=) rs138976782 0.00129
NM_004698.4(PRPF3):c.1032A>G (p.Thr344=) rs143350315 0.00036
NM_004698.4(PRPF3):c.780G>A (p.Glu260=) rs80201355 0.00030
NM_004698.4(PRPF3):c.501A>G (p.Thr167=) rs146995242 0.00019
NM_004698.4(PRPF3):c.1851G>A (p.Glu617=) rs782390597 0.00011
NM_004698.4(PRPF3):c.976A>G (p.Thr326Ala) rs782792715 0.00010
NM_004698.4(PRPF3):c.*64A>G rs886045263 0.00004
NM_004698.4(PRPF3):c.1526+14G>T rs376006808 0.00003
NM_004698.4(PRPF3):c.*154G>A rs368160043 0.00001
NM_004698.4(PRPF3):c.1042C>T (p.Leu348=) rs1489740997 0.00001
NM_004698.4(PRPF3):c.1317T>C (p.Tyr439=) rs782312050 0.00001
NM_004698.4(PRPF3):c.1334A>G (p.Gln445Arg) rs373571735 0.00001
NM_004698.4(PRPF3):c.729-15C>T rs587746193 0.00001
NM_004698.4(PRPF3):c.786G>A (p.Gly262=) rs782088671 0.00001
NM_004698.4(PRPF3):c.*209T>C rs886045265
NM_004698.4(PRPF3):c.-80C>T rs1655040946
NM_004698.4(PRPF3):c.1283-2A>G rs1572263399
NM_004698.4(PRPF3):c.1288A>G (p.Asn430Asp) rs1657976600
NM_004698.4(PRPF3):c.1390G>A (p.Val464Ile) rs1657984645
NM_004698.4(PRPF3):c.1455A>G (p.Leu485=) rs886045261
NM_004698.4(PRPF3):c.1464A>C (p.Glu488Asp) rs142253030
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) rs121434241
NM_004698.4(PRPF3):c.1496A>C (p.His499Pro) rs1658062720
NM_004698.4(PRPF3):c.1847A>T (p.Asp616Val) rs587704985
NM_004698.4(PRPF3):c.1906-15A>C rs886045262
NM_004698.4(PRPF3):c.2014C>T (p.Leu672Phe) rs1659093313
NM_004698.4(PRPF3):c.822G>C (p.Leu274=) rs886045260

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