ClinVar Miner

List of variants reported as uncertain significance for congenital limb malformation by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) rs144291418 0.00063
NM_001361.5(DHODH):c.682G>A (p.Glu228Lys) rs201202896 0.00051
NM_032634.4(PIGO):c.1991G>A (p.Arg664Gln) rs371923881 0.00003
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln) rs556002453 0.00002
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro) rs147205530

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