ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_182925.5(FLT4):c.2299+13G>C rs423086 0.95972
NM_182925.5(FLT4):c.1104-42T>C rs402647 0.94231
NM_182925.5(FLT4):c.3220-29A>G rs659268 0.76189
NM_182925.5(FLT4):c.2761+44G>A rs446003 0.66129
NM_182925.5(FLT4):c.2670C>G (p.His890Gln) rs448012 0.61446
NM_182925.5(FLT4):c.1103+18C>T rs438464 0.48279
NM_182925.5(FLT4):c.3198C>T (p.Pro1066=) rs1130378 0.24024
NM_182925.5(FLT4):c.2168-49G>A rs2242214 0.23522
NM_182925.5(FLT4):c.1083C>G (p.Tyr361Ter)
NM_182925.5(FLT4):c.1103+20A>C rs383985
NM_182925.5(FLT4):c.1622dup (p.Gln542fs) rs1581655293
NM_182925.5(FLT4):c.1755C>G (p.Tyr585Ter)
NM_182925.5(FLT4):c.244C>T (p.Arg82Ter) rs2127839096
NM_182925.5(FLT4):c.2765C>T (p.Pro922Leu)
NM_182925.5(FLT4):c.2922_2941del (p.Gly975fs)
NM_182925.5(FLT4):c.3179G>A (p.Arg1060Gln)
NM_182925.5(FLT4):c.3209G>T (p.Arg1070Leu) rs771345898
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
NM_182925.5(FLT4):c.952C>T (p.Arg318Ter) rs146006663

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