ClinVar Miner

List of variants in gene TMEM43 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.781-113T>C rs2607765 0.70439
NM_024334.3(TMEM43):c.883-128A>G rs2607767 0.66780
NM_024334.3(TMEM43):c.442+51T>C rs4685075 0.48785
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr) rs2340917 0.35127
NM_024334.3(TMEM43):c.393-83G>T rs4685074 0.34983
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn) rs4685076 0.29561
NM_024334.3(TMEM43):c.705+55G>A rs6766740 0.28601
NM_024334.3(TMEM43):c.298-253C>T rs17038942 0.24987
NM_024334.3(TMEM43):c.12+167C>T rs2733580 0.21408
NM_024334.3(TMEM43):c.12+130C>T rs2733579 0.21395
NM_024334.2(TMEM43):c.-300T>C rs2733578 0.20856
NM_024334.3(TMEM43):c.883-47C>T rs2731320 0.16071
NM_024334.3(TMEM43):c.163-247C>T rs6798807 0.14107
NM_024334.3(TMEM43):c.298-106C>T rs3964375 0.08928
NM_024334.3(TMEM43):c.1001-41G>A rs9874135 0.02966
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_024334.3(TMEM43):c.781-278A>G rs78942892 0.02538
NM_024334.3(TMEM43):c.392+121C>G rs56779598 0.02529
NM_024334.3(TMEM43):c.162+147C>T rs11711816 0.02450
NM_024334.3(TMEM43):c.882+336A>C rs75263282 0.02357
NM_024334.3(TMEM43):c.1000+261G>A rs80345392 0.02343
NM_024334.3(TMEM43):c.909C>T (p.Ser303=) rs35100587 0.02012
NC_000003.12:g.14125052G>A rs17038940 0.01190
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01016
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_024334.3(TMEM43):c.*31T>C rs182728261 0.00638
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_024334.3(TMEM43):c.*8C>T rs192707412 0.00216
NM_024334.3(TMEM43):c.392+16G>A rs150859949 0.00092
NM_024334.3(TMEM43):c.163-6T>A rs372434224 0.00078
NM_024334.3(TMEM43):c.780+16A>G rs146077457 0.00065
NM_024334.3(TMEM43):c.*16C>T rs3796310 0.00061
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_024334.3(TMEM43):c.516C>T (p.Ala172=) rs148432515 0.00045
NM_024334.3(TMEM43):c.45C>A (p.Val15=) rs150334659 0.00041
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00040
NM_024334.3(TMEM43):c.442+7G>A rs373590238 0.00029
NM_024334.3(TMEM43):c.443-9C>T rs371866082 0.00017
NM_024334.3(TMEM43):c.429G>A (p.Thr143=) rs201217046 0.00010
NM_024334.3(TMEM43):c.798G>A (p.Arg266=) rs139078900 0.00008
NM_024334.3(TMEM43):c.189A>G (p.Ser63=) rs934304715 0.00003
NM_024334.3(TMEM43):c.834G>A (p.Lys278=) rs151009158 0.00001
NM_024334.3(TMEM43):c.-31G>A rs1694999879
NM_024334.3(TMEM43):c.1161C>T (p.Ile387=) rs2124997435
NM_024334.3(TMEM43):c.12+280_12+281dup rs142202629
NM_024334.3(TMEM43):c.13-78del rs10648308
NM_024334.3(TMEM43):c.13-78dup rs10648308
NM_024334.3(TMEM43):c.13-79_13-78del rs10648308
NM_024334.3(TMEM43):c.13-79_13-78dup rs10648308
NM_024334.3(TMEM43):c.163-13C>T rs2124986809
NM_024334.3(TMEM43):c.442+43del rs141389147
NM_024334.3(TMEM43):c.512+19G>T rs114026215
NM_024334.3(TMEM43):c.512+9C>G rs2124989236
NM_024334.3(TMEM43):c.513-90G>A rs2733585

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