ClinVar Miner

List of variants in gene EVC, EVC2 studied for acrofacial dysostosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NC_000004.12:g.(?_5562838)_(5758135_?)del
NM_147127.5(EVC2):c.-15G>A rs76269601
NM_147127.5(EVC2):c.-19T>C rs188508515
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930

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