ClinVar Miner

List of variants in gene PKP2 reported as uncertain significance by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_004572.3(PKP2):c.1245G>A (p.Val415=) rs1555145513
NM_004572.3(PKP2):c.1379-1G>A rs139159464
NM_004572.3(PKP2):c.1812G>A (p.Thr604=) rs773662874
NM_004572.3(PKP2):c.1872G>T (p.Glu624Asp) rs370219248
NM_004572.3(PKP2):c.2300-4G>C rs376231586
NM_004572.3(PKP2):c.2349G>A (p.Pro783=) rs753226330
NM_004572.3(PKP2):c.2540T>C (p.Leu847Pro) rs1064794215
NM_004572.3(PKP2):c.336+17T>G rs185681814
NM_004572.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373
NM_004572.3(PKP2):c.457G>A (p.Asp153Asn) rs747856983
NM_004572.3(PKP2):c.567A>G (p.Leu189=) rs1555148149
NM_004572.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389
NM_004572.3(PKP2):c.789G>A (p.Thr263=) rs760432217
NM_004572.3(PKP2):c.900G>A (p.Thr300=) rs140235564
NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860

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