ClinVar Miner

List of variants in gene TMEM43 reported by Blueprint Genetics,

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Total variants: 7
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HGVS dbSNP
NM_024334.2(TMEM43):c.1059C>G (p.Phe353Leu) rs730880227
NM_024334.2(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.2(TMEM43):c.644A>C (p.His215Pro) rs730880225
NM_024334.2(TMEM43):c.658C>T (p.Arg220Cys) rs562700595
NM_024334.2(TMEM43):c.796C>T (p.Arg266Trp) rs139842014
NM_024334.2(TMEM43):c.803G>T (p.Arg268Leu) rs769969149
NM_024334.2(TMEM43):c.865G>A (p.Gly289Arg) rs730880226

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