ClinVar Miner

List of variants reported as uncertain significance for catecholaminergic polymorphic ventricular tachycardia 4

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NC_000014.8:g.(?_90863575)_(90871061_?)dup
NC_000014.8:g.(?_90870713)_(90871071_?)dup
NM_006888.6(CALM1):c.106G>C (p.Val36Leu) rs1887015236
NM_006888.6(CALM1):c.157A>G (p.Ile53Val) rs1555365887
NM_006888.6(CALM1):c.280G>C (p.Asp94His) rs1887099943
NM_006888.6(CALM1):c.301A>G (p.Ile101Val) rs1595102592
NM_006888.6(CALM1):c.328A>C (p.Met110Leu) rs2139771638
NM_006888.6(CALM1):c.358G>A (p.Glu120Lys)
NM_006888.6(CALM1):c.398G>C (p.Gly133Ala)
NM_006888.6(CALM1):c.4-3T>C
NM_006888.6(CALM1):c.402C>G (p.Asp134Glu)
NM_006888.6(CALM1):c.70G>A (p.Gly24Ser)
NM_006888.6(CALM1):c.78C>T (p.Gly26=) rs1555365884

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