ClinVar Miner

List of variants in gene TMEM43 reported as likely benign

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Total variants: 89
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HGVS dbSNP
NM_024334.2(TMEM43):c.*20C>T rs369461997
NM_024334.2(TMEM43):c.*8C>T rs192707412
NM_024334.2(TMEM43):c.-11C>T rs767001935
NM_024334.2(TMEM43):c.-142G>A rs17038940
NM_024334.2(TMEM43):c.-2C>T rs754747623
NM_024334.2(TMEM43):c.-3A>T rs763829810
NM_024334.2(TMEM43):c.1000+12G>A rs749592639
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.1111T>C (p.Tyr371His) rs116911972
NM_024334.2(TMEM43):c.1120_1121del (p.Leu374fs) rs746672224
NM_024334.2(TMEM43):c.1141G>A (p.Gly381Ser) rs767916602
NM_024334.2(TMEM43):c.1164T>G (p.Leu388=) rs1035334505
NM_024334.2(TMEM43):c.147A>G (p.Leu49=) rs727504629
NM_024334.2(TMEM43):c.162+227A>G
NM_024334.2(TMEM43):c.163-14C>T rs113745859
NM_024334.2(TMEM43):c.163-3del rs371706980
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.186C>G (p.Thr62=) rs773764939
NM_024334.2(TMEM43):c.189A>G (p.Ser63=) rs934304715
NM_024334.2(TMEM43):c.222C>T (p.Pro74=) rs34099410
NM_024334.2(TMEM43):c.231C>T (p.Ile77=) rs899266809
NM_024334.2(TMEM43):c.237T>C (p.Ser79=) rs1559360551
NM_024334.2(TMEM43):c.246G>A (p.Pro82=) rs376098518
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.279C>T (p.Gly93=) rs149883381
NM_024334.2(TMEM43):c.286C>G (p.Arg96Gly) rs754797146
NM_024334.2(TMEM43):c.297+13G>A rs397517381
NM_024334.2(TMEM43):c.333G>A (p.Pro111=) rs774276092
NM_024334.2(TMEM43):c.347G>A (p.Arg116Gln) rs143535006
NM_024334.2(TMEM43):c.35G>A (p.Arg12Lys) rs1559359985
NM_024334.2(TMEM43):c.381T>C (p.Thr127=) rs778409275
NM_024334.2(TMEM43):c.392+254C>T
NM_024334.2(TMEM43):c.392+9T>C rs780392028
NM_024334.2(TMEM43):c.393-4G>T rs1247757810
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.424G>A (p.Glu142Lys) rs145619906
NM_024334.2(TMEM43):c.429G>A (p.Thr143=) rs201217046
NM_024334.2(TMEM43):c.442+12G>C rs530183718
NM_024334.2(TMEM43):c.442+7G>A rs373590238
NM_024334.2(TMEM43):c.443-12C>G
NM_024334.2(TMEM43):c.443-48G>A
NM_024334.2(TMEM43):c.45C>A (p.Val15=) rs150334659
NM_024334.2(TMEM43):c.45C>G (p.Val15=) rs150334659
NM_024334.2(TMEM43):c.504A>T (p.Lys168Asn) rs4685076
NM_024334.2(TMEM43):c.512+12G>A rs766205020
NM_024334.2(TMEM43):c.512+19G>A rs114026215
NM_024334.2(TMEM43):c.513-125C>T
NM_024334.2(TMEM43):c.513-20C>T rs1054904116
NM_024334.2(TMEM43):c.513-285T>C
NM_024334.2(TMEM43):c.51T>G (p.Val17=) rs397517383
NM_024334.2(TMEM43):c.536T>C (p.Met179Thr) rs2340917
NM_024334.2(TMEM43):c.564C>T (p.Gly188=) rs143124744
NM_024334.2(TMEM43):c.579G>A (p.Ser193=) rs369319499
NM_024334.2(TMEM43):c.584-5dup rs1553603140
NM_024334.2(TMEM43):c.591C>T (p.Ile197=) rs145024252
NM_024334.2(TMEM43):c.630G>A (p.Lys210=) rs1057523392
NM_024334.2(TMEM43):c.645T>C (p.His215=) rs370782259
NM_024334.2(TMEM43):c.658C>T (p.Arg220Cys) rs562700595
NM_024334.2(TMEM43):c.692C>T (p.Pro231Leu) rs533275736
NM_024334.2(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492
NM_024334.2(TMEM43):c.705+7G>A rs201916031
NM_024334.2(TMEM43):c.747C>T (p.Ser249=) rs549809535
NM_024334.2(TMEM43):c.750C>T (p.Gly250=) rs374222050
NM_024334.2(TMEM43):c.763C>T
NM_024334.2(TMEM43):c.777C>T (p.His259=) rs143958148
NM_024334.2(TMEM43):c.781-13G>T rs202207425
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.829A>T (p.Thr277Ser) rs532872056
NM_024334.2(TMEM43):c.82C>T (p.Arg28Trp) rs35028636
NM_024334.2(TMEM43):c.864C>T (p.His288=) rs377585035
NM_024334.2(TMEM43):c.882+17A>G rs370443570
NM_024334.2(TMEM43):c.882+25G>A rs190262194
NM_024334.2(TMEM43):c.882+3G>A rs1057524625
NM_024334.2(TMEM43):c.883-340C>T
NM_024334.2(TMEM43):c.893A>G (p.His298Arg) rs1285837389
NM_024334.2(TMEM43):c.896G>C (p.Arg299Thr) rs139590716
NM_024334.2(TMEM43):c.909C>T (p.Ser303=) rs35100587
NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp) rs113449357
NM_024334.2(TMEM43):c.953C>T (p.Ala318Val) rs11924644
NM_024334.2(TMEM43):c.96C>T (p.Thr32=) rs1021721320
NM_024334.2(TMEM43):c.981A>G (p.Thr327=) rs764960823
NM_024334.2(TMEM43):c.98C>T (p.Ser33Leu) rs539753097
NM_024334.2(TMEM43):c.99G>A (p.Ser33=) rs147710692

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