ClinVar Miner

List of variants in gene EFTUD2 studied for acrofacial dysostosis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_004247.4(EFTUD2):c.1059-31T>C rs2120276 0.63264
NM_004247.4(EFTUD2):c.426+8G>A rs2289677 0.62345
NM_004247.4(EFTUD2):c.994+6C>T rs11654183 0.26275
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=) rs2289674 0.20662
NM_004247.4(EFTUD2):c.1058+3_1058+7del rs536749831 0.00538
NM_004247.4(EFTUD2):c.106-17C>T rs190562796 0.00020
NM_004247.4(EFTUD2):c.1933C>T (p.Arg645Trp) rs1230495188 0.00001
NM_004247.4(EFTUD2):c.1994C>T (p.Thr665Met) rs2050571775 0.00001
GRCh37/hg19 17q21.31(chr17:42929777-42937911)
NM_004247.4(EFTUD2):c.1033G>A (p.Gly345Ser)
NM_004247.4(EFTUD2):c.1058+1G>A rs1085307647
NM_004247.4(EFTUD2):c.106-1G>C rs2051181820
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter) rs996949678
NM_004247.4(EFTUD2):c.1117A>G (p.Ile373Val)
NM_004247.4(EFTUD2):c.1137G>C (p.Lys379Asn)
NM_004247.4(EFTUD2):c.1149+1G>C rs797045550
NM_004247.4(EFTUD2):c.1177C>G (p.Pro393Ala)
NM_004247.4(EFTUD2):c.121G>T (p.Asp41Tyr)
NM_004247.4(EFTUD2):c.1286-2A>G rs2145474253
NM_004247.4(EFTUD2):c.1286-2del
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs) rs797045551
NM_004247.4(EFTUD2):c.1331del (p.Gly444fs) rs2050697632
NM_004247.4(EFTUD2):c.1332del (p.Ala445fs)
NM_004247.4(EFTUD2):c.1414-2A>G rs1597797917
NM_004247.4(EFTUD2):c.1421del (p.Leu474fs)
NM_004247.4(EFTUD2):c.1425G>C (p.Met475Ile) rs2050683099
NM_004247.4(EFTUD2):c.1542C>A (p.Tyr514Ter) rs749855263
NM_004247.4(EFTUD2):c.1567del (p.Gln523fs) rs1555565774
NM_004247.4(EFTUD2):c.1585C>T (p.Arg529Cys) rs376157050
NM_004247.4(EFTUD2):c.1607+3A>G rs2145469964
NM_004247.4(EFTUD2):c.1627C>T (p.Arg543Cys)
NM_004247.4(EFTUD2):c.1649T>A (p.Val550Asp) rs2145461096
NM_004247.4(EFTUD2):c.1655T>C (p.Ile552Thr)
NM_004247.4(EFTUD2):c.1705C>T (p.Arg569Ter)
NM_004247.4(EFTUD2):c.1719+1G>A rs2145460853
NM_004247.4(EFTUD2):c.1732C>T (p.Arg578Ter) rs1057520673
NM_004247.4(EFTUD2):c.1742del (p.Lys581fs) rs1597795170
NM_004247.4(EFTUD2):c.1759_1760del (p.Val587fs) rs879253725
NM_004247.4(EFTUD2):c.1775_1779del (p.Val592fs) rs1135401812
NM_004247.4(EFTUD2):c.1783G>T (p.Val595Phe)
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.1904dup (p.Tyr636fs)
NM_004247.4(EFTUD2):c.1910T>G (p.Leu637Arg) rs387906879
NM_004247.4(EFTUD2):c.1946C>G (p.Ser649Ter) rs2145455322
NM_004247.4(EFTUD2):c.1957A>C (p.Ile653Leu) rs2050609262
NM_004247.4(EFTUD2):c.2023_2026dup (p.Ala676fs)
NM_004247.4(EFTUD2):c.2033C>T (p.Thr678Met) rs781402078
NM_004247.4(EFTUD2):c.2045+2T>G rs863224868
NM_004247.4(EFTUD2):c.2126G>A (p.Trp709Ter)
NM_004247.4(EFTUD2):c.2133-2A>G
NM_004247.4(EFTUD2):c.2166C>A (p.Tyr722Ter) rs1240441464
NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter) rs1555564341
NM_004247.4(EFTUD2):c.2199G>A (p.Trp733Ter) rs2145438293
NM_004247.4(EFTUD2):c.2309T>C (p.Phe770Ser)
NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe) rs1597789186
NM_004247.4(EFTUD2):c.2338T>C (p.Cys780Arg)
NM_004247.4(EFTUD2):c.2438G>A (p.Arg813Lys) rs1567728359
NM_004247.4(EFTUD2):c.2493C>A (p.Tyr831Ter) rs879253726
NM_004247.4(EFTUD2):c.2496C>G (p.Tyr832Ter) rs879253727
NM_004247.4(EFTUD2):c.2551del (p.Ala851fs) rs1555564126
NM_004247.4(EFTUD2):c.2562-2_2562-1del rs2050474390
NM_004247.4(EFTUD2):c.2562-2del rs2145431661
NM_004247.4(EFTUD2):c.2600del (p.Pro867fs) rs2050473924
NM_004247.4(EFTUD2):c.2643_2649del (p.Phe881fs)
NM_004247.4(EFTUD2):c.2678dup (p.Gln894fs)
NM_004247.4(EFTUD2):c.2698_2701del (p.Val900fs) rs886039349
NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter) rs387906878
NM_004247.4(EFTUD2):c.2823+1del rs879253728
NM_004247.4(EFTUD2):c.294A>T (p.Lys98Asn) rs2051147769
NM_004247.4(EFTUD2):c.334dup (p.Thr112fs)
NM_004247.4(EFTUD2):c.351-2A>G
NM_004247.4(EFTUD2):c.378del (p.Glu127fs) rs2051113996
NM_004247.4(EFTUD2):c.3G>T (p.Met1Ile)
NM_004247.4(EFTUD2):c.423del (p.Lys142fs)
NM_004247.4(EFTUD2):c.426+1dup
NM_004247.4(EFTUD2):c.509_519del (p.Ile170fs)
NM_004247.4(EFTUD2):c.593dup (p.Tyr198Ter)
NM_004247.4(EFTUD2):c.623A>G (p.His208Arg) rs397515431
NM_004247.4(EFTUD2):c.63A>T (p.Glu21Asp) rs2051340680
NM_004247.4(EFTUD2):c.670G>A (p.Gly224Arg)
NM_004247.4(EFTUD2):c.698A>G (p.Glu233Gly) rs2145532453
NM_004247.4(EFTUD2):c.702+2T>C
NM_004247.4(EFTUD2):c.702+3_702+4delinsAG
NM_004247.4(EFTUD2):c.702G>T (p.Gly234=) rs2051032338
NM_004247.4(EFTUD2):c.719_720del (p.Glu240fs)
NM_004247.4(EFTUD2):c.722G>A (p.Arg241Gln)
NM_004247.4(EFTUD2):c.764dup (p.Cys256fs) rs794729651
NM_004247.4(EFTUD2):c.766_767del (p.Cys256fs)
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) rs387906877
NM_004247.4(EFTUD2):c.793del (p.Leu265fs)
NM_004247.4(EFTUD2):c.828C>A (p.Tyr276Ter)
NM_004247.4(EFTUD2):c.870-1G>T rs2145503914
NM_004247.4(EFTUD2):c.870-5_870-4del rs2145503920
NM_004247.4(EFTUD2):c.882del (p.Asp295fs) rs1597807512
NM_004247.4:c.(350+1_351-1)_(492+1_493-1)del

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