ClinVar Miner

List of variants in gene CALM2 reported as uncertain significance for congenital heart disease

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
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.420A>G (p.Glu140=) rs201444040 0.00002
NM_001743.6(CALM2):c.104C>T (p.Thr35Ile) rs757523692 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.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
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.157A>G (p.Ile53Val) rs1553431807
NM_001743.6(CALM2):c.16A>T (p.Thr6Ser)
NM_001743.6(CALM2):c.178+4A>T
NM_001743.6(CALM2):c.179-8C>G rs1553431791
NM_001743.6(CALM2):c.182A>G (p.Asn61Ser) rs2103825319
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.285+3A>G
NM_001743.6(CALM2):c.299A>G (p.Tyr100Cys) rs1573214341
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.319C>T (p.Arg107Cys) rs1312868284
NM_001743.6(CALM2):c.34+5G>C
NM_001743.6(CALM2):c.359AAG[1] (p.Glu121del)
NM_001743.6(CALM2):c.400G>A (p.Asp134Asn) rs398124650
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.421+4A>C
NM_001743.6(CALM2):c.441_*4del (p.Ala148fs)
NM_001743.6(CALM2):c.54A>C (p.Ser18=)

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