List of variants in gene KCNJ2 reported as likely pathogenic for Andersen Tawil syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000891.3(KCNJ2):c.637C>T (p.Arg213Ter)	rs764523123	0.00001
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)	rs199473368
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His)	rs199473369
NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe)	rs864622292
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr)	rs199473380
NM_000891.3(KCNJ2):c.598G>A (p.Val200Met)
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)	rs104894578
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)	rs786205820

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