ClinVar Miner

List of variants studied for congenital heart disease by Genomic Medicine Lab, University of California San Francisco

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001923.5(DDB1):c.1240C>T (p.Arg414Trp) rs769032698 0.00006
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001451.3(FOXF1):c.413G>C (p.Arg138Pro) rs1597291380
NM_002332.3(LRP1):c.13559C>G (p.Ser4520Cys) rs1396150729
NM_002332.3(LRP1):c.1576C>G (p.Leu526Val) rs770169648
NM_002430.3(MN1):c.3839del (p.Cys1280fs) rs1601319594

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