List of variants in gene PKP2 studied for congenital anomaly of cardiovascular system

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)	rs146882581	0.00396
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)	rs199601548	0.00041
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)	rs200947767	0.00009
NM_001005242.3(PKP2):c.1010G>A (p.Ser337Asn)	rs144401285	0.00004
NM_001005242.3(PKP2):c.1878C>A (p.Asn626Lys)	rs769943903
NM_001005242.3(PKP2):c.1903C>T (p.His635Tyr)	rs757922359
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)	rs139734328
NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs)	rs786204395

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