ClinVar Miner

List of variants in gene TMEM43 reported as uncertain significance by Biesecker Lab/Clinical Genomics Section,National Institutes of Health

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Total variants: 9
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HGVS dbSNP
NM_024334.2(TMEM43):c.1090G>A (p.Val364Met) rs754236206
NM_024334.2(TMEM43):c.1111T>C (p.Tyr371His) rs116911972
NM_024334.2(TMEM43):c.121A>G (p.Met41Val) rs144334386
NM_024334.2(TMEM43):c.164G>A (p.Gly55Asp) rs201453637
NM_024334.2(TMEM43):c.169G>A (p.Ala57Thr) rs151010429
NM_024334.2(TMEM43):c.206C>T (p.Ser69Leu) rs369779779
NM_024334.2(TMEM43):c.218C>A (p.Ser73Tyr) rs200652985
NM_024334.2(TMEM43):c.296A>G (p.Lys99Arg) rs199943048
NM_024334.2(TMEM43):c.323T>C (p.Val108Ala) rs182351748

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