ClinVar Miner

List of variants studied for congenital total pulmonary venous return anomaly by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014391.3(ANKRD1):c.346-15_346-14insA rs60700562 0.01084
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_014391.3(ANKRD1):c.346-15_346-14del rs794728971
NM_014391.3(ANKRD1):c.346-16_346-15insATA rs60923931
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.3(ANKRD1):c.346-19_346-14del rs58762441
NM_014391.3(ANKRD1):c.346-29_346-12del rs72003210
NM_014391.3(ANKRD1):c.346-35_346-12del rs751458325

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