ClinVar Miner

List of variants reported as uncertain significance for congenital heart disease by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_021785.6(RAI2):c.712G>A (p.Val238Ile) rs1208705303 0.00010
NM_001284236.3(ZFYVE16):c.1798G>A (p.Asp600Asn) rs1561277007
NM_001284236.3(ZFYVE16):c.3755G>C (p.Gly1252Ala) rs1561310640
NM_002202.3(ISL1):c.766-1G>A rs1561208602
NM_004850.5(ROCK2):c.3724C>T (p.Gln1242Ter) rs1558277937
NM_007192.4(SUPT16H):c.956-1G>A rs1566388186
Single allele

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