ClinVar Miner

List of variants in gene PKP2 reported as likely benign by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_001005242.3(PKP2):c.1171-10T>C rs200122872 0.00073
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001005242.3(PKP2):c.306C>A (p.Ser102=) rs376613662 0.00012
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001005242.3(PKP2):c.1889T>C (p.Val630Ala) rs751965920 0.00004
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=) rs139098675 0.00004
NM_001005242.3(PKP2):c.963C>T (p.Val321=) rs202207343 0.00004
NM_001005242.3(PKP2):c.1379-2056C>T rs749052785 0.00003
NM_001005242.3(PKP2):c.2072G>A (p.Arg691Gln) rs547215531 0.00002
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val) rs763749576 0.00001
NM_001005242.3(PKP2):c.2349A>G (p.Ala783=) rs139258347 0.00001
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.1251G>T (p.Gly417=) rs567854722
NM_001005242.3(PKP2):c.1379-2062G>A
NM_001005242.3(PKP2):c.1593G>C (p.Ala531=) rs760093803
NM_001005242.3(PKP2):c.2168-21_2168-20del rs200266270
NM_001005242.3(PKP2):c.240C>G (p.Thr80=) rs1565599860
NM_001005242.3(PKP2):c.406G>A (p.Val136Met) rs567795321

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