ClinVar Miner

List of variants in gene PCARE reported as pathogenic

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Gene type:
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Total variants: 45
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HGVS dbSNP
NM_001029883.3(PCARE):c.1040_1041del (p.Cys346_Ser347insTer)
NM_001029883.3(PCARE):c.1180G>T (p.Gly394Ter)
NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter) rs777103184
NM_001029883.3(PCARE):c.1229del (p.Gln410fs)
NM_001029883.3(PCARE):c.1273C>T (p.Arg425Ter)
NM_001029883.3(PCARE):c.1377del (p.Phe459fs)
NM_001029883.3(PCARE):c.1516C>T (p.Gln506Ter)
NM_001029883.3(PCARE):c.1525del (p.Thr509fs)
NM_001029883.3(PCARE):c.1541del (p.Pro514fs)
NM_001029883.3(PCARE):c.1545dup (p.Ser516fs) rs1553354826
NM_001029883.3(PCARE):c.1709_1728del (p.Gly570fs)
NM_001029883.3(PCARE):c.1786_1789del (p.Glu597fs)
NM_001029883.3(PCARE):c.1804_1805del (p.His603fs)
NM_001029883.3(PCARE):c.1828C>T (p.Gln610Ter) rs886044003
NM_001029883.3(PCARE):c.1837C>T (p.Arg613Ter)
NM_001029883.3(PCARE):c.1841_1848del (p.Arg614fs)
NM_001029883.3(PCARE):c.1949G>A (p.Trp650Ter)
NM_001029883.3(PCARE):c.2227_2228del (p.Leu744fs) rs886044002
NM_001029883.3(PCARE):c.2380dup (p.Met794fs) rs1572827477
NM_001029883.3(PCARE):c.2421del (p.Leu808fs)
NM_001029883.3(PCARE):c.2506G>T (p.Glu836Ter) rs886044135
NM_001029883.3(PCARE):c.2704A>T (p.Lys902Ter)
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.2920_2921insC (p.Glu974fs) rs1553354488
NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter) rs774215025
NM_001029883.3(PCARE):c.2967del (p.Val990fs)
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029883.3(PCARE):c.3049A>T (p.Arg1017Ter)
NM_001029883.3(PCARE):c.3183del (p.Glu1062fs)
NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter) rs369937337
NM_001029883.3(PCARE):c.3388_3389del (p.Leu1130fs)
NM_001029883.3(PCARE):c.3488G>A (p.Trp1163Ter)
NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter)
NM_001029883.3(PCARE):c.391G>T (p.Gly131Ter)
NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter) rs1572829866
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.712A>T (p.Lys238Ter) rs863223344
NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter) rs750987123
NM_001029883.3(PCARE):c.776_777del (p.Glu259fs) rs1572829514
NM_001029883.3(PCARE):c.802C>T (p.Gln268Ter)
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter)
NM_001029883.3(PCARE):c.947del (p.Asn316fs) rs779886453
NM_001029883.3(PCARE):c.958del (p.Arg320fs)
PCARE, TRP253TER

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