ClinVar Miner

List of variants in gene PCARE studied for Retinitis pigmentosa 54

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Total variants: 25
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HGVS dbSNP
NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter) rs777103184
NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter) rs1572829010
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965
NM_001029883.3(PCARE):c.1541del (p.Pro514fs)
NM_001029883.3(PCARE):c.1545dup (p.Ser516fs) rs1553354826
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys) rs80151896
NM_001029883.3(PCARE):c.1612C>T (p.Gln538Ter)
NM_001029883.3(PCARE):c.1663del (p.Val555fs)
NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met) rs10166913
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) rs140776870
NM_001029883.3(PCARE):c.1894A>T (p.Lys632Ter)
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) rs182248363
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) rs192350796
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694
NM_001029883.3(PCARE):c.3668+2T>C
NM_001029883.3(PCARE):c.3669-2AGC[4]
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791
NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter) rs267606691
NM_001029883.3(PCARE):c.601A>T (p.Ile201Phe) rs267606690
NM_001029883.3(PCARE):c.947del (p.Asn316fs) rs779886453
PCARE, TRP253TER

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