ClinVar Miner

List of variants studied for congenital total pulmonary venous return anomaly by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (2):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_014391.3(ANKRD1):c.-17A>G rs79341122 0.00753
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_014391.3(ANKRD1):c.208-16C>T rs79793575 0.00161
NM_014391.3(ANKRD1):c.652-10A>T rs397517252 0.00023
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=) rs147484763 0.00006
NM_014391.3(ANKRD1):c.710A>G (p.His237Arg) rs145326465 0.00001
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.3(ANKRD1):c.346-19_346-18del rs398014415
NM_014391.3(ANKRD1):c.346-29_346-12del rs72003210

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