ClinVar Miner

List of variants studied for congenital heart disease by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_001127392.3(MYRF):c.1160T>C (p.Phe387Ser) rs2066302424
NM_001127392.3(MYRF):c.1209G>C (p.Gln403His) rs1027079885
NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg) rs1565295550
NM_001127392.3(MYRF):c.1435C>G (p.Leu479Val) rs2066382188
NM_001127392.3(MYRF):c.1786C>T (p.Gln596Ter) rs762143393
NM_001127392.3(MYRF):c.1904-1G>A rs2066445430
NM_001127392.3(MYRF):c.2036T>C (p.Val679Ala) rs2066476390
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His) rs1382225004
NM_001127392.3(MYRF):c.239dup (p.Gly81fs) rs2066051319
NM_005126.5(NR1D2):c.523C>T (p.Arg175Trp) rs1358487339
NM_017617.5(NOTCH1):c.1077C>A (p.Cys359Ter) rs202235419
NM_017617.5(NOTCH1):c.1651dup (p.Thr551fs) rs1843262329
NM_017617.5(NOTCH1):c.2741-1G>A rs1843152606
NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg) rs1842918022

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