ClinVar Miner

List of variants in gene EFTUD2 reported as uncertain significance for acrofacial dysostosis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_004247.4(EFTUD2):c.1933C>T (p.Arg645Trp) rs1230495188 0.00001
NM_004247.4(EFTUD2):c.1994C>T (p.Thr665Met) rs2050571775 0.00001
NM_004247.4(EFTUD2):c.1033G>A (p.Gly345Ser)
NM_004247.4(EFTUD2):c.1117A>G (p.Ile373Val)
NM_004247.4(EFTUD2):c.1177C>G (p.Pro393Ala)
NM_004247.4(EFTUD2):c.121G>T (p.Asp41Tyr)
NM_004247.4(EFTUD2):c.1425G>C (p.Met475Ile) rs2050683099
NM_004247.4(EFTUD2):c.1585C>T (p.Arg529Cys) rs376157050
NM_004247.4(EFTUD2):c.1627C>T (p.Arg543Cys)
NM_004247.4(EFTUD2):c.1655T>C (p.Ile552Thr)
NM_004247.4(EFTUD2):c.1832A>G (p.Asn611Ser)
NM_004247.4(EFTUD2):c.1861-9_1861-7del rs2050611350
NM_004247.4(EFTUD2):c.1904T>A (p.Leu635His) rs2145455460
NM_004247.4(EFTUD2):c.1957A>C (p.Ile653Leu) rs2050609262
NM_004247.4(EFTUD2):c.2338T>C (p.Cys780Arg)
NM_004247.4(EFTUD2):c.2438G>A (p.Arg813Lys) rs1567728359
NM_004247.4(EFTUD2):c.294A>T (p.Lys98Asn) rs2051147769
NM_004247.4(EFTUD2):c.63A>T (p.Glu21Asp) rs2051340680
NM_004247.4(EFTUD2):c.698A>G (p.Glu233Gly) rs2145532453
NM_004247.4(EFTUD2):c.702+3_702+4delinsAG
NM_004247.4(EFTUD2):c.722G>A (p.Arg241Gln)

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