ClinVar Miner

List of variants in gene TMEM43 studied for not provided

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Total variants: 52
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HGVS dbSNP
GRCh37/hg19 3p25.1(chr3:14177954-14183188)x1
GRCh37/hg19 3p25.1(chr3:14177954-14183410)x1
GRCh37/hg19 3p25.1(chr3:14178271-14183758)x1
GRCh37/hg19 3p25.1(chr3:14178300-14183758)x1
NM_024334.2(TMEM43):c.1001-3C>T rs1553603640
NM_024334.2(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.2(TMEM43):c.1090G>A (p.Val364Met) rs754236206
NM_024334.2(TMEM43):c.1100G>A (p.Gly367Asp) rs794729179
NM_024334.2(TMEM43):c.1111T>C (p.Tyr371His) rs116911972
NM_024334.2(TMEM43):c.1115G>A (p.Arg372Gln) rs749140979
NM_024334.2(TMEM43):c.121A>G (p.Met41Val) rs144334386
NM_024334.2(TMEM43):c.163-3delC rs371706980
NM_024334.2(TMEM43):c.164G>A (p.Gly55Asp) rs201453637
NM_024334.2(TMEM43):c.166C>T (p.Arg56Cys) rs201094625
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.214G>A (p.Val72Met) rs368603914
NM_024334.2(TMEM43):c.218C>A (p.Ser73Tyr) rs200652985
NM_024334.2(TMEM43):c.244C>G (p.Pro82Ala) rs148171303
NM_024334.2(TMEM43):c.271A>G (p.Ile91Val) rs144811578
NM_024334.2(TMEM43):c.286C>G (p.Arg96Gly) rs754797146
NM_024334.2(TMEM43):c.296A>G (p.Lys99Arg) rs199943048
NM_024334.2(TMEM43):c.323T>C (p.Val108Ala) rs182351748
NM_024334.2(TMEM43):c.337G>A (p.Val113Met) rs572474708
NM_024334.2(TMEM43):c.344T>C (p.Leu115Pro) rs376182664
NM_024334.2(TMEM43):c.410G>C (p.Gly137Ala) rs760628106
NM_024334.2(TMEM43):c.421_423delAAG (p.Lys141del) rs746639451
NM_024334.2(TMEM43):c.424G>A (p.Glu142Lys) rs145619906
NM_024334.2(TMEM43):c.424G>C (p.Glu142Gln) rs145619906
NM_024334.2(TMEM43):c.509C>G (p.Pro170Arg) rs794729181
NM_024334.2(TMEM43):c.513-9C>G rs369551282
NM_024334.2(TMEM43):c.520G>A (p.Ala174Thr) rs397517385
NM_024334.2(TMEM43):c.578C>T (p.Ser193Leu) rs140380494
NM_024334.2(TMEM43):c.625T>G (p.Ser209Ala) rs397517386
NM_024334.2(TMEM43):c.62C>T (p.Ser21Phe) rs794729183
NM_024334.2(TMEM43):c.644A>C (p.His215Pro) rs730880225
NM_024334.2(TMEM43):c.659G>A (p.Arg220His) rs570836197
NM_024334.2(TMEM43):c.661C>T (p.Arg221Cys) rs182464375
NM_024334.2(TMEM43):c.692C>T (p.Pro231Leu) rs533275736
NM_024334.2(TMEM43):c.705+7G>A rs201916031
NM_024334.2(TMEM43):c.718C>T (p.Arg240Cys) rs367910936
NM_024334.2(TMEM43):c.751G>A (p.Asp251Asn) rs375481688
NM_024334.2(TMEM43):c.796C>T (p.Arg266Trp) rs139842014
NM_024334.2(TMEM43):c.83G>A (p.Arg28Gln) rs757651177
NM_024334.2(TMEM43):c.83_87delGGCTGinsAGGA (p.Arg28Glnfs) rs794729182
NM_024334.2(TMEM43):c.853C>T (p.Leu285Phe) rs186530498
NM_024334.2(TMEM43):c.859C>T (p.His287Tyr) rs780299346
NM_024334.2(TMEM43):c.882+25G>A rs190262194
NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp) rs113449357
NM_024334.2(TMEM43):c.947G>C (p.Trp316Ser) rs199526104
NM_024334.2(TMEM43):c.96C>T (p.Thr32=) rs1021721320
NM_024334.2(TMEM43):c.99G>A (p.Ser33=) rs147710692

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