ClinVar Miner

List of variants studied for acrofacial dysostosis by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val) rs1554033934
NM_004247.4(EFTUD2):c.1149+1G>C rs797045550
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs) rs797045551
NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter) rs1555564341
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) rs387906877
NM_004429.4(EFNB1):c.128+2T>A rs1556096780
NM_004429.4(EFNB1):c.131T>C (p.Phe44Ser) rs1556105849
NM_004429.4(EFNB1):c.523C>T (p.Gln175Ter) rs1556107856
NM_004429.4(EFNB1):c.560_561AC[1] (p.Thr188fs) rs1556107925
NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs) rs797045954
NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter) rs797045955
NM_005850.5(SF3B4):c.43_44GT[1] (p.Tyr16fs) rs797045956
NM_005850.5(SF3B4):c.731_743del (p.Pro244fs) rs797045957

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