ClinVar Miner

List of variants in gene TMEM43 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.*8C>T rs192707412 0.00225
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_024334.3(TMEM43):c.45C>A (p.Val15=) rs150334659 0.00041
NM_024334.3(TMEM43):c.442+7G>A rs373590238 0.00031
NM_024334.3(TMEM43):c.564C>T (p.Gly188=) rs143124744 0.00024
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=) rs141675061 0.00021
NM_024334.3(TMEM43):c.402C>T (p.Thr134=) rs370422391 0.00004
NM_024334.3(TMEM43):c.763C>T (p.Leu255=) rs761968722 0.00001
NM_024334.3(TMEM43):c.147A>G (p.Leu49=) rs727504629
NM_024334.3(TMEM43):c.297+13G>A rs397517381
NM_024334.3(TMEM43):c.399C>T (p.Tyr133=) rs876657589
NM_024334.3(TMEM43):c.51T>G (p.Val17=) rs397517383

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