ClinVar Miner

List of variants in gene CALM1, LOC126862021 studied for long QT syndrome

Included ClinVar conditions (78):
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_006888.6(CALM1):c.402C>T (p.Asp134=) rs193072150 0.00009
NM_006888.6(CALM1):c.417T>C (p.Tyr139=) rs377521523 0.00001
NM_006888.6(CALM1):c.421+8_421+9del rs767443947 0.00001
NM_006888.6(CALM1):c.422-16dup rs776212211 0.00001
NM_006888.6(CALM1):c.422-20T>C rs1232803707 0.00001
NM_006888.6(CALM1):c.426C>T (p.Phe142=) rs199744595 0.00001
NM_006888.6(CALM1):c.358G>A (p.Glu120Lys)
NM_006888.6(CALM1):c.389A>G (p.Asp130Gly) rs730882252
NM_006888.6(CALM1):c.390T>C (p.Asp130=) rs2139771676
NM_006888.6(CALM1):c.394G>A (p.Asp132Asn) rs1595102640
NM_006888.6(CALM1):c.395A>G (p.Asp132Gly) rs1887113791
NM_006888.6(CALM1):c.395A>T (p.Asp132Val) rs1887113791
NM_006888.6(CALM1):c.398G>A (p.Gly133Glu) rs1555366045
NM_006888.6(CALM1):c.398G>C (p.Gly133Ala)
NM_006888.6(CALM1):c.398G>T (p.Gly133Val)
NM_006888.6(CALM1):c.402C>G (p.Asp134Glu)
NM_006888.6(CALM1):c.411C>G (p.Val137=) rs749827346
NM_006888.6(CALM1):c.421+10A>G
NM_006888.6(CALM1):c.421+6dup rs2139771726
NM_006888.6(CALM1):c.421+7_421+10del rs771894805
NM_006888.6(CALM1):c.422-15T>C
NM_006888.6(CALM1):c.422-19A>G
NM_006888.6(CALM1):c.422A>G (p.Glu141Gly) rs1887120112
NM_006888.6(CALM1):c.422A>T (p.Glu141Val) rs1887120112
NM_006888.6(CALM1):c.424T>C (p.Phe142Leu) rs1085307479
NM_006888.6(CALM1):c.426C>A (p.Phe142Leu) rs199744595
NM_006888.6(CALM1):c.426C>G (p.Phe142Leu) rs199744595

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