ClinVar Miner

List of variants in gene TMEM43 reported as likely benign by Invitae

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Total variants: 25
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HGVS dbSNP
NM_024334.2(TMEM43):c.1095G>A (p.Ala365=) rs141675061
NM_024334.2(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046
NM_024334.2(TMEM43):c.1120_1121del (p.Leu374fs) rs746672224
NM_024334.2(TMEM43):c.164G>A (p.Gly55Asp) rs201453637
NM_024334.2(TMEM43):c.177G>A (p.Lys59=) rs1553602938
NM_024334.2(TMEM43):c.180G>A (p.Thr60=) rs765703685
NM_024334.2(TMEM43):c.189A>G (p.Ser63=) rs934304715
NM_024334.2(TMEM43):c.231C>T (p.Ile77=) rs899266809
NM_024334.2(TMEM43):c.265G>A (p.Val89Met) rs147319971
NM_024334.2(TMEM43):c.267G>A (p.Val89=) rs763697982
NM_024334.2(TMEM43):c.286C>G (p.Arg96Gly) rs754797146
NM_024334.2(TMEM43):c.392+9T>C rs780392028
NM_024334.2(TMEM43):c.393-4G>T rs1247757810
NM_024334.2(TMEM43):c.402C>T (p.Thr134=) rs370422391
NM_024334.2(TMEM43):c.424G>A (p.Glu142Lys) rs145619906
NM_024334.2(TMEM43):c.429G>A (p.Thr143=) rs201217046
NM_024334.2(TMEM43):c.442+7G>A rs373590238
NM_024334.2(TMEM43):c.45C>G (p.Val15=) rs150334659
NM_024334.2(TMEM43):c.591C>T (p.Ile197=) rs145024252
NM_024334.2(TMEM43):c.645T>C (p.His215=) rs370782259
NM_024334.2(TMEM43):c.692C>T (p.Pro231Leu) rs533275736
NM_024334.2(TMEM43):c.705+7G>A rs201916031
NM_024334.2(TMEM43):c.798G>A (p.Arg266=) rs139078900
NM_024334.2(TMEM43):c.802C>T (p.Arg268Trp) rs201138253
NM_024334.2(TMEM43):c.981A>G (p.Thr327=) rs764960823

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