ClinVar Miner

List of variants reported as uncertain significance for atrial septal defect by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) rs932577597 0.00003
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) rs137852954 0.00001
NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu) rs1555673862
NM_001308093.3(GATA4):c.786+16G>T rs200555437
NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro) rs1556948950

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