ClinVar Miner

List of variants studied for Retinitis pigmentosa 14 by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003322.6(TULP1):c.1495+1G>A rs281865168 0.00003
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.1259G>C (p.Arg420Pro) rs121909073
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.99+1G>A rs281865166

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