ClinVar Miner

List of variants studied for congenital heart defects, multiple types by Baylor Genetics

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_080473.5(GATA5):c.477C>G (p.Phe159Leu) rs112433432 0.00088
NM_001492.6(GDF1):c.997G>A (p.Asp333Asn) rs1429110767 0.00001
NM_001292034.3(TAB2):c.1154C>T (p.Pro385Leu) rs71568273
NM_001292034.3(TAB2):c.1491T>A (p.Tyr497Ter) rs1562443558
NM_001292034.3(TAB2):c.1764+1G>A rs1782223593
NM_001292034.3(TAB2):c.2051G>A (p.Cys684Tyr) rs1562459581
NM_001292034.3(TAB2):c.287G>A (p.Arg96Lys) rs1781470267
NM_001292034.3(TAB2):c.473_474del (p.His158fs)
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001492.6(GDF1):c.649C>G (p.Leu217Val) rs2055909840
NM_021005.4(NR2F2):c.1094T>A (p.Leu365His)

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