ClinVar Miner

List of variants studied for atrial septal defect 7 by OMIM

Included ClinVar conditions (3):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004387.4(NKX2-5):c.215_221del (p.Glu72fs) rs606231358
NM_004387.4(NKX2-5):c.228_229del (p.Pro77fs) rs606231359
NM_004387.4(NKX2-5):c.262del (p.Ala88fs) rs606231360
NM_004387.4(NKX2-5):c.380C>A (p.Ala127Glu) rs387906774
NM_004387.4(NKX2-5):c.44A>T (p.Lys15Ile) rs387906773
NM_004387.4(NKX2-5):c.508C>T (p.Gln170Ter) rs104893901
NM_004387.4(NKX2-5):c.533C>T (p.Thr178Met) rs104893900
NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys) rs104893906
NM_004387.4(NKX2-5):c.592C>T (p.Gln198Ter) rs104893903
NM_004387.4(NKX2-5):c.768T>A (p.Tyr256Ter) rs104893907
NM_004387.4(NKX2-5):c.896A>G (p.Asp299Gly) rs137852683

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