ClinVar Miner

List of variants in gene TMEM43 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 6
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HGVS dbSNP
NM_024334.2(TMEM43):c.-3A>T
NM_024334.2(TMEM43):c.121A>G (p.Met41Val) rs144334386
NM_024334.2(TMEM43):c.214G>A (p.Val72Met) rs368603914
NM_024334.2(TMEM43):c.718C>T (p.Arg240Cys) rs367910936
NM_024334.2(TMEM43):c.839G>A (p.Gly280Glu)
NM_024334.2(TMEM43):c.964G>A (p.Gly322Ser)

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