ClinVar Miner

List of variants in gene TMEM43 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 50
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HGVS dbSNP
NM_024334.2(TMEM43):c.*8C>T rs192707412
NM_024334.2(TMEM43):c.1000+5G>T rs376589026
NM_024334.2(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.2(TMEM43):c.1095G>A (p.Ala365=) rs141675061
NM_024334.2(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134
NM_024334.2(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046
NM_024334.2(TMEM43):c.1111T>C (p.Tyr371His) rs116911972
NM_024334.2(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617
NM_024334.2(TMEM43):c.1120_1121delCT (p.Leu374Valfs) rs746672224
NM_024334.2(TMEM43):c.13T>C (p.Tyr5His) rs727505249
NM_024334.2(TMEM43):c.147A>G (p.Leu49=) rs727504629
NM_024334.2(TMEM43):c.163-14C>T rs113745859
NM_024334.2(TMEM43):c.163-1G>C rs1060499911
NM_024334.2(TMEM43):c.163-3delC rs371706980
NM_024334.2(TMEM43):c.166C>T (p.Arg56Cys) rs201094625
NM_024334.2(TMEM43):c.222C>T (p.Pro74=) rs34099410
NM_024334.2(TMEM43):c.271A>G (p.Ile91Val) rs144811578
NM_024334.2(TMEM43):c.280G>A (p.Ala94Thr) rs369142200
NM_024334.2(TMEM43):c.297+13G>A rs397517381
NM_024334.2(TMEM43):c.323T>C (p.Val108Ala) rs182351748
NM_024334.2(TMEM43):c.361A>G (p.Met121Val) rs369878538
NM_024334.2(TMEM43):c.392+4A>G rs397517382
NM_024334.2(TMEM43):c.399C>T (p.Tyr133=) rs876657589
NM_024334.2(TMEM43):c.402C>T (p.Thr134=) rs370422391
NM_024334.2(TMEM43):c.413A>G (p.Gln138Arg) rs397517384
NM_024334.2(TMEM43):c.424G>A (p.Glu142Lys) rs145619906
NM_024334.2(TMEM43):c.428C>T (p.Thr143Met) rs544554435
NM_024334.2(TMEM43):c.442+7G>A rs373590238
NM_024334.2(TMEM43):c.45C>A (p.Val15=) rs150334659
NM_024334.2(TMEM43):c.484G>A (p.Asp162Asn) rs150425166
NM_024334.2(TMEM43):c.486_489delCCGA (p.Asp162Glufs) rs1060499910
NM_024334.2(TMEM43):c.504A>T (p.Lys168Asn) rs4685076
NM_024334.2(TMEM43):c.51T>G (p.Val17=) rs397517383
NM_024334.2(TMEM43):c.520G>A (p.Ala174Thr) rs397517385
NM_024334.2(TMEM43):c.536T>C (p.Met179Thr) rs2340917
NM_024334.2(TMEM43):c.583+3A>G rs876658021
NM_024334.2(TMEM43):c.625T>G (p.Ser209Ala) rs397517386
NM_024334.2(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492
NM_024334.2(TMEM43):c.705+7G>A rs201916031
NM_024334.2(TMEM43):c.718C>T (p.Arg240Cys) rs367910936
NM_024334.2(TMEM43):c.829A>T (p.Thr277Ser) rs532872056
NM_024334.2(TMEM43):c.82C>T (p.Arg28Trp) rs35028636
NM_024334.2(TMEM43):c.850C>G (p.Leu284Val) rs727504764
NM_024334.2(TMEM43):c.883-15C>A rs727504984
NM_024334.2(TMEM43):c.909C>T (p.Ser303=) rs35100587
NM_024334.2(TMEM43):c.921G>A (p.Lys307=) rs201771608
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.953C>T (p.Ala318Val) rs11924644
NM_024334.2(TMEM43):c.961A>G (p.Met321Val) rs397517387

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