ClinVar Miner

List of variants in gene PKP2 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 14
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HGVS dbSNP
NM_001005242.2(PKP2):c.1379-2097A>C rs1555144761
NM_001005242.2(PKP2):c.1788_1790CAA[2] (p.Asn598del) rs750084387
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872
NM_001005242.3(PKP2):c.1379-2055G>A rs920363668
NM_001005242.3(PKP2):c.149C>G (p.Thr50Arg) rs1402887591
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774
NM_001005242.3(PKP2):c.234C>T (p.His78=) rs1591829350
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_001005242.3(PKP2):c.487C>A (p.His163Asn) rs1006488583
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_004572.3(PKP2):c.1872G>T (p.Glu624Asp) rs370219248
NM_004572.3(PKP2):c.2019C>T (p.Gly673=) rs368325383

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