ClinVar Miner

List of variants studied for congenital heart defects, multiple types, 7 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_182925.5(FLT4):c.1083C>G (p.Tyr361Ter)
NM_182925.5(FLT4):c.1622dup (p.Gln542fs) rs1581655293
NM_182925.5(FLT4):c.3332-356_3894-1373del
NM_182925.5(FLT4):c.3574C>T (p.Gln1192Ter) rs1581616817
NM_182925.5(FLT4):c.89del (p.Pro30fs) rs755445139

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