ClinVar Miner

List of variants reported as likely benign for acrofacial dysostosis, Weyers type by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Total variants: 7
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HGVS dbSNP
NM_147127.5(EVC2):c.2517A>G (p.Ser839=) rs756424912
NM_147127.5(EVC2):c.354C>G (p.Ala118=) rs915274674
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908

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