ClinVar Miner

List of variants studied for acrofacial dysostosis by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001104631.2(PDE4D):c.2179C>T (p.Arg727Trp) rs759832724
NM_004429.4(EFNB1):c.749T>G (p.Ile250Ser) rs1569398326
NM_020928.2(ZSWIM6):c.440_454del (p.Ala147_Gly151del) rs772099709
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520

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