ClinVar Miner

List of variants in gene TMEM43 reported as benign by GeneDx

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Total variants: 31
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HGVS dbSNP
NM_024334.2(TMEM43):c.*8C>T rs192707412
NM_024334.2(TMEM43):c.-300T>C
NM_024334.2(TMEM43):c.1000+261G>A
NM_024334.2(TMEM43):c.1001-41G>A
NM_024334.2(TMEM43):c.12+130C>T
NM_024334.2(TMEM43):c.12+167C>T
NM_024334.2(TMEM43):c.162+147C>T
NM_024334.2(TMEM43):c.163-14C>T rs113745859
NM_024334.2(TMEM43):c.163-247C>T
NM_024334.2(TMEM43):c.298-106C>T
NM_024334.2(TMEM43):c.298-253C>T
NM_024334.2(TMEM43):c.392+121C>G
NM_024334.2(TMEM43):c.392+16G>A rs150859949
NM_024334.2(TMEM43):c.393-83G>T
NM_024334.2(TMEM43):c.442+51T>C
NM_024334.2(TMEM43):c.443-9C>T rs371866082
NM_024334.2(TMEM43):c.45C>A (p.Val15=) rs150334659
NM_024334.2(TMEM43):c.504A>T (p.Lys168Asn) rs4685076
NM_024334.2(TMEM43):c.516C>T (p.Ala172=) rs148432515
NM_024334.2(TMEM43):c.536T>C (p.Met179Thr) rs2340917
NM_024334.2(TMEM43):c.705+55G>A
NM_024334.2(TMEM43):c.705+7G>A rs201916031
NM_024334.2(TMEM43):c.780+16A>G rs146077457
NM_024334.2(TMEM43):c.781-113T>C
NM_024334.2(TMEM43):c.781-278A>G
NM_024334.2(TMEM43):c.798G>A (p.Arg266=) rs139078900
NM_024334.2(TMEM43):c.82C>T (p.Arg28Trp) rs35028636
NM_024334.2(TMEM43):c.882+336A>C
NM_024334.2(TMEM43):c.883-128A>G
NM_024334.2(TMEM43):c.883-47C>T
NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp) rs113449357

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