ClinVar Miner

List of variants in gene CALM2 studied for long QT syndrome

Included ClinVar conditions (78):
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Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001743.6(CALM2):c.421+97G>C rs2454084 0.76235
NM_001743.6(CALM2):c.421+96T>C rs2454085 0.74378
NM_001743.6(CALM2):c.421+18A>G rs2016682 0.01645
NM_001743.6(CALM2):c.240A>T (p.Thr80=) rs77653008 0.00461
NM_001743.6(CALM2):c.243C>T (p.Asp81=) rs141298844 0.00056
NM_001743.6(CALM2):c.178+12A>G rs376209800 0.00007
NM_001743.6(CALM2):c.421+3A>G rs372947059 0.00005
NM_001743.6(CALM2):c.285+5G>A rs760654198 0.00004
NM_001743.6(CALM2):c.421+10T>G rs1193912501 0.00004
NM_001743.6(CALM2):c.348G>A (p.Lys116=) rs546507069 0.00003
NM_001743.6(CALM2):c.4-10C>T rs375578672 0.00003
NM_001743.6(CALM2):c.336C>T (p.Asn112=) rs751334551 0.00002
NM_001743.6(CALM2):c.420A>G (p.Glu140=) rs201444040 0.00002
NM_001743.6(CALM2):c.104C>T (p.Thr35Ile) rs757523692 0.00001
NM_001743.6(CALM2):c.165A>G (p.Glu55=) rs1687190320 0.00001
NM_001743.6(CALM2):c.285+14_285+20del rs1481884663 0.00001
NM_001743.6(CALM2):c.3+9A>C rs749288383 0.00001
NM_001743.6(CALM2):c.33A>G (p.Ala11=) rs1324754202 0.00001
NM_001743.6(CALM2):c.379A>G (p.Arg127Gly) rs775065505 0.00001
NM_001743.6(CALM2):c.429A>G (p.Val143=) rs1400854272 0.00001
NM_001743.6(CALM2):c.79A>T (p.Thr27Ser) rs1131691669 0.00001
NC_000002.11:g.(?_47387915)_(47389821_?)dup
NC_000002.11:g.(?_47387915)_(47397923_?)dup
NC_000002.11:g.(?_47387915)_(47403582_?)dup
NC_000002.11:g.(?_47388842)_(47403582_?)dup
NC_000002.11:g.(?_47403560)_(47403582_?)dup
NM_001305624.1(CALM2):c.8G>A (p.Arg3His)
NM_001743.6(CALM2):c.-56G>A
NM_001743.6(CALM2):c.-9G>C
NM_001743.6(CALM2):c.104C>A (p.Thr35Asn)
NM_001743.6(CALM2):c.105T>C (p.Thr35=)
NM_001743.6(CALM2):c.123G>A (p.Gly41=) rs369374910
NM_001743.6(CALM2):c.123G>C (p.Gly41=)
NM_001743.6(CALM2):c.157A>G (p.Ile53Val) rs1553431807
NM_001743.6(CALM2):c.16A>T (p.Thr6Ser)
NM_001743.6(CALM2):c.178+10C>T
NM_001743.6(CALM2):c.178+10del rs2103825559
NM_001743.6(CALM2):c.178+17G>A
NM_001743.6(CALM2):c.178+4A>T
NM_001743.6(CALM2):c.178+7C>G
NM_001743.6(CALM2):c.178+9T>A
NM_001743.6(CALM2):c.179-15A>G
NM_001743.6(CALM2):c.179-15A>T rs747307571
NM_001743.6(CALM2):c.179-29_179-10del rs1558694867
NM_001743.6(CALM2):c.179-8C>G rs1553431791
NM_001743.6(CALM2):c.179-9C>T rs778197988
NM_001743.6(CALM2):c.182A>G (p.Asn61Ser) rs2103825319
NM_001743.6(CALM2):c.186C>A (p.Gly62=) rs1573215311
NM_001743.6(CALM2):c.203A>C (p.Glu68Ala) rs1687186092
NM_001743.6(CALM2):c.247G>A (p.Glu83Lys) rs1687185703
NM_001743.6(CALM2):c.249A>G (p.Glu83=)
NM_001743.6(CALM2):c.261A>G (p.Arg87=) rs765564888
NM_001743.6(CALM2):c.268T>C (p.Phe90Leu)
NM_001743.6(CALM2):c.285+16G>C rs3729963
NM_001743.6(CALM2):c.285+16G>T rs3729963
NM_001743.6(CALM2):c.285+17A>T
NM_001743.6(CALM2):c.285+3A>G
NM_001743.6(CALM2):c.285+9A>G
NM_001743.6(CALM2):c.286-10T>A rs1558694452
NM_001743.6(CALM2):c.286-13A>C
NM_001743.6(CALM2):c.286-14A>G
NM_001743.6(CALM2):c.286-14A>T
NM_001743.6(CALM2):c.286-18_286-17del rs112882205
NM_001743.6(CALM2):c.286-19A>G
NM_001743.6(CALM2):c.286-6del
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.291C>T (p.Gly97=)
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.299A>G (p.Tyr100Cys) rs1573214341
NM_001743.6(CALM2):c.3+12G>A
NM_001743.6(CALM2):c.3+13C>T
NM_001743.6(CALM2):c.3+17G>C
NM_001743.6(CALM2):c.3+18C>G
NM_001743.6(CALM2):c.3+20G>T
NM_001743.6(CALM2):c.3+9_3+18del
NM_001743.6(CALM2):c.307G>A (p.Ala103Thr)
NM_001743.6(CALM2):c.308C>T (p.Ala103Val)
NM_001743.6(CALM2):c.310G>A (p.Ala104Thr)
NM_001743.6(CALM2):c.313G>C (p.Glu105Gln)
NM_001743.6(CALM2):c.319C>T (p.Arg107Cys) rs1312868284
NM_001743.6(CALM2):c.328A>T (p.Met110Leu) rs1553431711
NM_001743.6(CALM2):c.34+12_34+13delinsCT rs2103844524
NM_001743.6(CALM2):c.34+17T>C rs2103844496
NM_001743.6(CALM2):c.34+19G>T
NM_001743.6(CALM2):c.34+5G>C
NM_001743.6(CALM2):c.342A>C (p.Gly114=)
NM_001743.6(CALM2):c.35-10_35-7del rs757274055
NM_001743.6(CALM2):c.35-12T>C
NM_001743.6(CALM2):c.35-14T>C
NM_001743.6(CALM2):c.35-15C>G rs2103825832
NM_001743.6(CALM2):c.359AAG[1] (p.Glu121del)
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.397G>A (p.Gly133Ser) rs2103823599
NM_001743.6(CALM2):c.4-15T>C
NM_001743.6(CALM2):c.4-17C>G
NM_001743.6(CALM2):c.4-19C>A
NM_001743.6(CALM2):c.4-5T>C
NM_001743.6(CALM2):c.4-8dup rs2103844591
NM_001743.6(CALM2):c.400G>A (p.Asp134Asn) rs398124650
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.411A>G (p.Val137=)
NM_001743.6(CALM2):c.413_416dup (p.Tyr139Ter) rs1687163296
NM_001743.6(CALM2):c.414C>A (p.Asn138Lys) rs1553431702
NM_001743.6(CALM2):c.414C>G (p.Asn138Lys) rs1553431702
NM_001743.6(CALM2):c.417T>C (p.Tyr139=) rs2103823534
NM_001743.6(CALM2):c.421+11C>T
NM_001743.6(CALM2):c.421+13G>A
NM_001743.6(CALM2):c.421+19C>T
NM_001743.6(CALM2):c.421+4A>C
NM_001743.6(CALM2):c.421+8T>C
NM_001743.6(CALM2):c.422-12C>T
NM_001743.6(CALM2):c.422-12dup
NM_001743.6(CALM2):c.422-13del rs2103821563
NM_001743.6(CALM2):c.422-15C>T
NM_001743.6(CALM2):c.422-15CTT[2] rs775247848
NM_001743.6(CALM2):c.422-9C>T
NM_001743.6(CALM2):c.423G>C (p.Glu141Asp) rs2103821507
NM_001743.6(CALM2):c.434T>G (p.Met145Arg) rs1558693760
NM_001743.6(CALM2):c.441_*4del (p.Ala148fs)
NM_001743.6(CALM2):c.54A>C (p.Ser18=)
NM_001743.6(CALM2):c.57A>G (p.Leu19=) rs754538204
NM_001743.6(CALM2):c.63C>T (p.Asp21=) rs2103825750

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