List of variants reported as pathogenic for Retinitis pigmentosa 14

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_003322.6(TULP1):c.187G>T (p.Gly63Ter)	rs757725696	0.00005
NM_003322.6(TULP1):c.1495+1G>A	rs281865168	0.00003
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln)	rs748972748	0.00002
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)	rs121909076	0.00001
NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp)	rs121909077	0.00001
NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln)	rs146311742	0.00001
NC_000006.12:g.35506278_35506281del	rs2150925640
NM_003322.6(TULP1):c.1066C>A (p.Pro356Thr)	rs201836697
NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro)	rs121909073
NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter)	rs751589956
NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys)	rs121909075
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu)	rs121909074
NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs)	rs1581734819
NM_003322.6(TULP1):c.718+2T>C	rs1581742970
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)	rs201070350
NM_003322.6(TULP1):c.99+1G>A	rs281865166

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