ClinVar Miner

List of variants in gene TMEM43 reported by Integrated Genetics/Laboratory Corporation of America

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Total variants: 15
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HGVS dbSNP
NM_024334.2(TMEM43):c.1001-3C>T rs1553603640
NM_024334.2(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.2(TMEM43):c.1150C>G (p.Leu384Val) rs193922706
NM_024334.2(TMEM43):c.163-14C>T rs113745859
NM_024334.2(TMEM43):c.163-3delC rs371706980
NM_024334.2(TMEM43):c.286C>G (p.Arg96Gly) rs754797146
NM_024334.2(TMEM43):c.347G>A (p.Arg116Gln) rs143535006
NM_024334.2(TMEM43):c.578C>T (p.Ser193Leu) rs140380494
NM_024334.2(TMEM43):c.684C>T (p.Ser228=) rs371019231
NM_024334.2(TMEM43):c.705+7G>A rs201916031
NM_024334.2(TMEM43):c.797G>A (p.Arg266Gln) rs193922707
NM_024334.2(TMEM43):c.896G>C (p.Arg299Thr) rs139590716
NM_024334.2(TMEM43):c.921G>A (p.Lys307=) rs201771608
NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp) rs113449357
NM_024334.2(TMEM43):c.99G>A (p.Ser33=) rs147710692

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