ClinVar Miner

List of variants in gene RP1 reported as pathogenic for retinitis pigmentosa 1

Included ClinVar conditions (1):
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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_001375654.1(RP1):c.2212-1G>A rs997666144 0.00001
NM_006269.2(RP1):c.1458_1461dup (p.Glu488Ter) rs869320728 0.00001
NM_006269.2(RP1):c.4804C>T (p.Gln1602Ter) rs1359338583 0.00001
NM_006269.2(RP1):c.1012C>T (p.Arg338Ter) rs1805984836
NM_006269.2(RP1):c.1451C>A (p.Ser484Ter) rs1563329888
NM_006269.2(RP1):c.2001del (p.Val668fs)
NM_006269.2(RP1):c.2015del (p.Lys672fs)
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter) rs104894083
NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter) rs1250214380
NM_006269.2(RP1):c.2079del (p.Gly694fs) rs2129316415
NM_006269.2(RP1):c.2102_2103del (p.Arg701fs)
NM_006269.2(RP1):c.2103_2104del (p.Arg701fs)
NM_006269.2(RP1):c.2285_2289del (p.Leu762fs) rs869320726
NM_006269.2(RP1):c.2287_2290del (p.Asn763fs) rs869320727
NM_006269.2(RP1):c.2335del (p.Ser779fs) rs1563330595
NM_006269.2(RP1):c.257dup (p.Arg87fs) rs1314420869
NM_006269.2(RP1):c.3157del (p.Tyr1053fs) rs748709396
NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter) rs561075447
NM_006269.2(RP1):c.3428del (p.Asn1143fs) rs1806088809
NM_006269.2(RP1):c.368_369dup (p.Pro124fs) rs1246397238
NM_006269.2(RP1):c.3690del (p.Gly1231fs) rs1554519822
NM_006269.2(RP1):c.3843del (p.Pro1282fs) rs769601671
NM_006269.2(RP1):c.4743dup (p.Cys1582fs) rs886041040
NM_006269.2(RP1):c.532C>T (p.Gln178Ter) rs2129314462
NM_006269.2(RP1):c.6_7del (p.Ser2fs)
NM_006269.2(RP1):c.788-2_790del rs779627969

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