ClinVar Miner

List of variants studied for congenital limb malformation by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg) rs1554571225
NM_001001557.4(GDF6):c.1330T>A (p.Tyr444Asn) rs1554571213
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_002470.4(MYH3):c.1385A>G (p.Asp462Gly) rs121913622
NM_002470.4(MYH3):c.1549G>T (p.Asp517Tyr) rs1597488252
NM_002470.4(MYH3):c.1748A>C (p.Tyr583Ser) rs1597488038
NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro) rs1567553806
NM_002470.4(MYH3):c.533C>T (p.Thr178Ile) rs121913619
NM_002470.4(MYH3):c.782C>T (p.Ser261Phe) rs1597490381
NM_002470.4(MYH3):c.859T>G (p.Phe287Val) rs1567560080
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg) rs1567559562
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
NM_006757.4(TNNT3):c.188G>A (p.Arg63His) rs121434638
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695

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