ClinVar Miner

List of variants reported as benign for atrial septal defect 7

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004387.4(NKX2-5):c.63A>G (p.Glu21=) rs2277923 0.44081
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=) rs77612903 0.00681
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_004387.4(NKX2-5):c.594G>A (p.Gln198=) rs7728764 0.00381
NC_000005.10:g.173235491T>C rs118026695 0.00176
NM_004387.4(NKX2-5):c.335-162G>A rs200039950 0.00121
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=) rs72554029 0.00115
NM_004387.4(NKX2-5):c.606G>C (p.Leu202=) rs3729753 0.00096
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser) rs137852684 0.00090
NM_004387.4(NKX2-5):c.114G>A (p.Glu38=) rs151314714 0.00078
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904 0.00073
NM_004387.4(NKX2-5):c.180G>A (p.Glu60=) rs373636712 0.00027
NM_004387.4(NKX2-5):c.*296G>C rs540202205 0.00009
NM_004387.4(NKX2-5):c.300C>A (p.Pro100=) rs767243751 0.00001
NM_004387.4(NKX2-5):c.309C>T (p.Ala103=) rs759221178 0.00001
NM_004387.4(NKX2-5):c.335-5dup rs1316920712
NM_004387.4(NKX2-5):c.357G>C (p.Ala119=) rs769566306

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