ClinVar Miner

List of variants in gene EFTUD2 studied for acrofacial dysostosis

Included ClinVar conditions (11):
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_004247.4(EFTUD2):c.1058+1G>A rs1085307647
NM_004247.4(EFTUD2):c.1149+1G>C rs797045550
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs) rs797045551
NM_004247.4(EFTUD2):c.1414-2A>G rs1597797917
NM_004247.4(EFTUD2):c.1567del (p.Gln523fs) rs1555565774
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.1910T>G (p.Leu637Arg) rs387906879
NM_004247.4(EFTUD2):c.2045+2T>G rs863224868
NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter) rs1555564341
NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe) rs1597789186
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.2770C>T (p.Gln924Ter) rs387906878
NM_004247.4(EFTUD2):c.2823+1del rs879253728
NM_004247.4(EFTUD2):c.426+8G>A rs2289677
NM_004247.4(EFTUD2):c.623A>G (p.His208Arg) rs397515431
NM_004247.4(EFTUD2):c.702G>T (p.Gly234=)
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=) rs2289674
NM_004247.4(EFTUD2):c.764dup (p.Cys256fs) rs794729651
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) rs387906877
NM_004247.4(EFTUD2):c.882del (p.Asp295fs) rs1597807512
NM_004247.4(EFTUD2):c.994+6C>T rs11654183

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