ClinVar Miner

List of variants studied for catecholaminergic polymorphic ventricular tachycardia 4

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_006888.6(CALM1):c.-86G>A rs12886342 0.76686
NM_006888.6(CALM1):c.4-63C>T rs2268433 0.49644
NM_006888.6(CALM1):c.4-10C>G rs191723671 0.00166
NM_006888.6(CALM1):c.178+18A>G rs201018787 0.00078
NM_006888.6(CALM1):c.303C>T (p.Ile101=) rs143503733 0.00046
NM_006888.6(CALM1):c.69T>C (p.Asp23=) rs144339242 0.00034
NM_006888.6(CALM1):c.285+20G>T rs185096080 0.00023
NM_006888.6(CALM1):c.324C>T (p.His108=) rs139706811 0.00013
NM_006888.6(CALM1):c.3+13T>C rs745827400 0.00012
NM_006888.6(CALM1):c.402C>T (p.Asp134=) rs193072150 0.00009
NM_006888.6(CALM1):c.72C>T (p.Gly24=) rs267607278 0.00006
NM_006888.6(CALM1):c.18C>T (p.Thr6=) rs755065015 0.00004
NM_006888.6(CALM1):c.285+17A>G rs757946033 0.00002
NM_006888.6(CALM1):c.183T>C (p.Asn61=) rs751759267 0.00001
NM_006888.6(CALM1):c.201C>T (p.Pro67=) rs762047997 0.00001
NM_006888.6(CALM1):c.273A>G (p.Arg91=) rs1211887414 0.00001
NM_006888.6(CALM1):c.4-9T>A rs1213908678 0.00001
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
NC_000014.8:g.(?_90863575)_(90871061_?)del
NC_000014.8:g.(?_90863575)_(90871061_?)dup
NC_000014.8:g.(?_90870713)_(90871071_?)dup
NC_000014.9:g.90397013C>T rs12885713
NM_006888.6(CALM1):c.106G>C (p.Val36Leu) rs1887015236
NM_006888.6(CALM1):c.108C>T (p.Val36=) rs1476676874
NM_006888.6(CALM1):c.118C>T (p.Leu40=) rs2139767906
NM_006888.6(CALM1):c.150G>A (p.Gln50=)
NM_006888.6(CALM1):c.154A>G (p.Met52Val)
NM_006888.6(CALM1):c.157A>G (p.Ile53Val) rs1555365887
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) rs267607276
NM_006888.6(CALM1):c.178+16C>A
NM_006888.6(CALM1):c.178+20G>T
NM_006888.6(CALM1):c.179-14T>C
NM_006888.6(CALM1):c.179-17T>G
NM_006888.6(CALM1):c.179-4C>T
NM_006888.6(CALM1):c.179-9dup
NM_006888.6(CALM1):c.198C>T (p.Phe66=)
NM_006888.6(CALM1):c.199C>T (p.Pro67Ser)
NM_006888.6(CALM1):c.213T>C (p.Thr71=)
NM_006888.6(CALM1):c.225A>G (p.Arg75=) rs1887098758
NM_006888.6(CALM1):c.234A>G (p.Lys78=)
NM_006888.6(CALM1):c.237T>C (p.Asp79=)
NM_006888.6(CALM1):c.240A>G (p.Thr80=)
NM_006888.6(CALM1):c.243T>C (p.Asp81=)
NM_006888.6(CALM1):c.258C>A (p.Ile86=)
NM_006888.6(CALM1):c.264G>A (p.Glu88=)
NM_006888.6(CALM1):c.267A>G (p.Ala89=) rs2139771046
NM_006888.6(CALM1):c.27G>A (p.Gln9=)
NM_006888.6(CALM1):c.280G>C (p.Asp94His) rs1887099943
NM_006888.6(CALM1):c.285+12T>A
NM_006888.6(CALM1):c.285+15A>G
NM_006888.6(CALM1):c.286-18A>G
NM_006888.6(CALM1):c.286-20C>T
NM_006888.6(CALM1):c.286-9T>C
NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr)
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) rs267607277
NM_006888.6(CALM1):c.293A>T (p.Asn98Ile)
NM_006888.6(CALM1):c.3+10G>C
NM_006888.6(CALM1):c.3+14G>T
NM_006888.6(CALM1):c.3+15G>A
NM_006888.6(CALM1):c.301A>G (p.Ile101Val) rs1595102592
NM_006888.6(CALM1):c.327C>T (p.Val109=)
NM_006888.6(CALM1):c.328A>C (p.Met110Leu) rs2139771638
NM_006888.6(CALM1):c.336C>T (p.Asn112=)
NM_006888.6(CALM1):c.34+12A>C rs752987778
NM_006888.6(CALM1):c.34+12A>G
NM_006888.6(CALM1):c.34+16C>T rs758632437
NM_006888.6(CALM1):c.34+19G>T rs755923535
NM_006888.6(CALM1):c.35-11T>A
NM_006888.6(CALM1):c.35-12_35-11delinsCC
NM_006888.6(CALM1):c.35-13del rs1555365883
NM_006888.6(CALM1):c.35-14A>G
NM_006888.6(CALM1):c.35-19G>A
NM_006888.6(CALM1):c.35-44_77dup
NM_006888.6(CALM1):c.358G>A (p.Glu120Lys)
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.4-15del
NM_006888.6(CALM1):c.4-3T>C
NM_006888.6(CALM1):c.4-6A>G
NM_006888.6(CALM1):c.4-6A>T
NM_006888.6(CALM1):c.4-7C>T
NM_006888.6(CALM1):c.4-9T>C
NM_006888.6(CALM1):c.402C>G (p.Asp134Glu)
NM_006888.6(CALM1):c.405A>G (p.Gly135=)
NM_006888.6(CALM1):c.411C>A (p.Val137=)
NM_006888.6(CALM1):c.411C>G (p.Val137=) rs749827346
NM_006888.6(CALM1):c.421+10A>G
NM_006888.6(CALM1):c.421+16C>G rs267607279
NM_006888.6(CALM1):c.421+6dup rs2139771726
NM_006888.6(CALM1):c.421+7_421+10del rs771894805
NM_006888.6(CALM1):c.422-10G>A
NM_006888.6(CALM1):c.422-15T>C
NM_006888.6(CALM1):c.422-16_422-12del
NM_006888.6(CALM1):c.422-19A>G
NM_006888.6(CALM1):c.422-8C>T
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.70G>A (p.Gly24Ser)
NM_006888.6(CALM1):c.78C>T (p.Gly26=) rs1555365884
NM_006888.6(CALM1):c.84C>T (p.Ile28=)
NM_006888.6(CALM1):c.87A>C (p.Thr29=) rs2139767870
NM_006888.6(CALM1):c.90A>C (p.Thr30=) rs1595100965

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