ClinVar Miner

List of variants reported as pathogenic for Long QT syndrome 1 by Labcorp Genetics (formerly Invitae), Labcorp

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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.394G>T (p.Asp132Tyr) rs2103823612
NM_001743.6(CALM2):c.395A>G (p.Asp132Gly) rs1687164164
NM_005184.4(CALM3):c.281A>C (p.Asp94Ala) rs1060502608
NM_005184.4(CALM3):c.286G>C (p.Asp96His) rs1060502607
NM_005184.4(CALM3):c.390C>G (p.Asp130Glu) rs35617141
NM_005184.4(CALM3):c.421G>A (p.Glu141Lys) rs1599759598
NM_005184.4(CALM3):c.426T>G (p.Phe142Leu) rs2513646355

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