List of variants in gene CALM2 reported as pathogenic for congenital heart disease

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr)	rs1573214371
NM_001743.6(CALM2):c.287A>T (p.Asp96Val)	rs730882254
NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)	rs398124647
NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)	rs398124647
NM_001743.6(CALM2):c.388G>A (p.Asp130Asn)	rs2103823638
NM_001743.6(CALM2):c.389A>G (p.Asp130Gly)	rs1573214163
NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr)	rs2103823612
NM_001743.6(CALM2):c.395A>G (p.Asp132Gly)	rs1687164164
NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)	rs398124648
NM_001743.6(CALM2):c.400G>C (p.Asp134His)	rs398124650
NM_001743.6(CALM2):c.407A>C (p.Gln136Pro)	rs398124649
NM_001743.6(CALM2):c.414C>G (p.Asn138Lys)	rs1553431702

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