ClinVar Miner

List of variants reported as pathogenic for acrofacial dysostosis, Weyers type by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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EVC2, 3797T-A, LEU1266TER
EVC2, 3797T-G, LEU1266TER
NM_147127.5(EVC2):c.3793del (p.Leu1265fs) rs587776568
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter) rs1560121645
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426

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