ClinVar Miner

List of variants reported as benign for atrial septal defect

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001077653.2(TBX20):c.39T>C (p.Ser13=) rs336283 0.73657
NM_004387.4(NKX2-5):c.63A>G (p.Glu21=) rs2277923 0.44081
NM_001077653.2(TBX20):c.545+13A>G rs17675148 0.36511
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02473
NM_002471.4(MYH6):c.3408G>A (p.Lys1136=) rs28730770 0.01687
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
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_001077653.2(TBX20):c.1017A>C (p.Thr339=) rs112054378 0.00547
NM_004387.4(NKX2-5):c.594G>A (p.Gln198=) rs7728764 0.00381
NM_002471.4(MYH6):c.5475G>A (p.Glu1825=) rs79143968 0.00344
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NC_000005.10:g.173235491T>C rs118026695 0.00176
NM_002471.4(MYH6):c.2293-12C>G rs115453571 0.00175
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
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_002471.4(MYH6):c.5140C>A (p.Arg1714=) rs140651265 0.00036
NM_004387.4(NKX2-5):c.180G>A (p.Glu60=) rs373636712 0.00027
NM_001719.3(BMP7):c.945G>A (p.Met315Ile) rs183792918 0.00011
NM_004387.4(NKX2-5):c.*296G>C rs540202205 0.00009
NM_002471.4(MYH6):c.4960-9G>A rs557113705 0.00001
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_005159.5(ACTC1):c.129+19_129+20insT rs386134228 0.00001
NM_001077653.2(TBX20):c.655-44G>A rs2072434
NM_004387.4(NKX2-5):c.335-5dup rs1316920712
NM_004387.4(NKX2-5):c.357G>C (p.Ala119=) rs769566306
NM_005159.5(ACTC1):c.129+6C>G rs564151494
NM_005159.5(ACTC1):c.130-11dup rs2140432284
NM_005159.5(ACTC1):c.930T>C (p.Gly310=) rs561081869

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