ClinVar Miner

List of variants in gene CALM2 reported as likely benign for congenital heart disease

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001743.6(CALM2):c.178+12A>G rs376209800 0.00007
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.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.429A>G (p.Val143=) rs1400854272 0.00001
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.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+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.179-9C>T rs778197988
NM_001743.6(CALM2):c.186C>A (p.Gly62=) rs1573215311
NM_001743.6(CALM2):c.249A>G (p.Glu83=)
NM_001743.6(CALM2):c.261A>G (p.Arg87=) rs765564888
NM_001743.6(CALM2):c.285+16G>T rs3729963
NM_001743.6(CALM2):c.285+17A>T
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.286-19A>G
NM_001743.6(CALM2):c.291C>T (p.Gly97=)
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.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.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.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.411A>G (p.Val137=)
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+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.57A>G (p.Leu19=) rs754538204
NM_001743.6(CALM2):c.63C>T (p.Asp21=) rs2103825750

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