ClinVar Miner

List of variants in gene EFTUD2 studied for Inborn genetic diseases

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_004247.4(EFTUD2):c.2555G>A (p.Arg852Lys) rs776160266 0.00009
NM_004247.4(EFTUD2):c.2042A>G (p.Lys681Arg) rs144798973 0.00006
NM_004247.4(EFTUD2):c.1045T>G (p.Phe349Val) rs1170530911 0.00001
NM_004247.4(EFTUD2):c.1061G>A (p.Arg354Gln) rs758219829 0.00001
NM_004247.4(EFTUD2):c.290T>C (p.Val97Ala) rs141916105 0.00001
NM_004247.4(EFTUD2):c.105+2T>G rs2051339634
NM_004247.4(EFTUD2):c.1058+1G>A rs1085307647
NM_004247.4(EFTUD2):c.1181G>A (p.Arg394Gln)
NM_004247.4(EFTUD2):c.140A>G (p.Asp47Gly)
NM_004247.4(EFTUD2):c.1412A>T (p.Asp471Val)
NM_004247.4(EFTUD2):c.1465_1466del (p.Gln489fs) rs1555565807
NM_004247.4(EFTUD2):c.1484G>A (p.Arg495Gln)
NM_004247.4(EFTUD2):c.1554del (p.Asp518fs) rs2050680680
NM_004247.4(EFTUD2):c.1570A>G (p.Ile524Val) rs1555565772
NM_004247.4(EFTUD2):c.1585C>T (p.Arg529Cys) rs376157050
NM_004247.4(EFTUD2):c.1726A>G (p.Ile576Val)
NM_004247.4(EFTUD2):c.1954G>T (p.Asp652Tyr)
NM_004247.4(EFTUD2):c.228G>C (p.Glu76Asp)
NM_004247.4(EFTUD2):c.2299G>A (p.Val767Ile)
NM_004247.4(EFTUD2):c.2306G>A (p.Gly769Asp) rs2050507811
NM_004247.4(EFTUD2):c.2352dup (p.Arg785fs) rs1555564175
NM_004247.4(EFTUD2):c.2504_2505dup (p.Val836fs) rs2050490408
NM_004247.4(EFTUD2):c.2562-1G>A rs1555564006
NM_004247.4(EFTUD2):c.2595dup (p.Ser866fs) rs1555563998
NM_004247.4(EFTUD2):c.2906A>G (p.Asn969Ser)
NM_004247.4(EFTUD2):c.335C>T (p.Thr112Met)
NM_004247.4(EFTUD2):c.545A>G (p.Lys182Arg)
NM_004247.4(EFTUD2):c.702+1G>T rs1085307457
NM_004247.4(EFTUD2):c.944G>A (p.Ser315Asn)

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