ClinVar Miner

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

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.883-340C>T rs114149034 0.00987
NM_024334.3(TMEM43):c.1000+226_1000+227del rs149041766 0.00924
NM_024334.3(TMEM43):c.513-285T>C rs116264282 0.00876
NM_024334.3(TMEM43):c.393-168T>G rs75677144 0.00800
NM_024334.3(TMEM43):c.392+254C>T rs144260204 0.00777
NM_024334.3(TMEM43):c.162+227A>G rs147094114 0.00741
NM_024334.3(TMEM43):c.443-48G>A rs41284009 0.00724
NM_024334.3(TMEM43):c.513-125C>T rs78384995 0.00665
NM_024334.3(TMEM43):c.584-262A>T rs143665934 0.00503
NM_024334.3(TMEM43):c.781-225T>C rs141251141 0.00496
NM_024334.3(TMEM43):c.12+34G>C rs202159933 0.00426
NM_024334.3(TMEM43):c.392+191G>A rs73817814 0.00378
NM_024334.3(TMEM43):c.393-274A>C rs76785718 0.00372
NM_024334.3(TMEM43):c.583+193A>C rs9822462 0.00310
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00069
NM_024334.3(TMEM43):c.13-328C>T rs117511391 0.00058
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046 0.00046
NM_024334.3(TMEM43):c.279C>T (p.Gly93=) rs149883381 0.00044
NM_024334.3(TMEM43):c.777C>T (p.His259=) rs143958148 0.00036
NM_024334.3(TMEM43):c.*20C>T rs369461997 0.00021
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=) rs141675061 0.00021
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln) rs143535006 0.00021
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr) rs139590716 0.00021
NM_024334.3(TMEM43):c.864C>T (p.His288=) rs377585035 0.00014
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly) rs754797146 0.00008
NM_024334.3(TMEM43):c.981A>G (p.Thr327=) rs764960823 0.00006
NM_024334.3(TMEM43):c.442+12G>C rs530183718 0.00005
NM_024334.3(TMEM43):c.882+17A>G rs370443570 0.00005
NM_024334.3(TMEM43):c.624A>G (p.Leu208=) rs527942696 0.00004
NM_024334.3(TMEM43):c.-2C>T rs754747623 0.00003
NM_024334.3(TMEM43):c.1000+12G>A rs749592639 0.00003
NM_024334.3(TMEM43):c.180G>A (p.Thr60=) rs765703685 0.00003
NM_024334.3(TMEM43):c.512+12G>A rs766205020 0.00003
NM_024334.3(TMEM43):c.692C>T (p.Pro231Leu) rs533275736 0.00003
NM_024334.3(TMEM43):c.96C>T (p.Thr32=) rs1021721320 0.00003
NM_024334.3(TMEM43):c.1140C>T (p.Ala380=) rs1055842863 0.00002
NM_024334.3(TMEM43):c.747C>T (p.Ser249=) rs549809535 0.00002
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser) rs532872056 0.00002
NM_024334.3(TMEM43):c.98C>T (p.Ser33Leu) rs539753097 0.00002
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser) rs767916602 0.00001
NM_024334.3(TMEM43):c.246G>A (p.Pro82=) rs376098518 0.00001
NM_024334.3(TMEM43):c.333G>A (p.Pro111=) rs774276092 0.00001
NM_024334.3(TMEM43):c.392+9T>C rs780392028 0.00001
NM_024334.3(TMEM43):c.443-12C>G rs368555747 0.00001
NM_024334.3(TMEM43):c.781-13G>T rs202207425 0.00001
NC_000003.12:g.14124933C>T rs140252037
NM_024334.3(TMEM43):c.-11C>T rs767001935
NM_024334.3(TMEM43):c.1164T>G (p.Leu388=) rs1035334505
NM_024334.3(TMEM43):c.13-81_13-78del rs10648308
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024334.3(TMEM43):c.512+19G>A rs114026215
NM_024334.3(TMEM43):c.513-20C>T rs1054904116
NM_024334.3(TMEM43):c.584-5dup rs1553603140
NM_024334.3(TMEM43):c.630G>A (p.Lys210=) rs1057523392
NM_024334.3(TMEM43):c.882+3G>A rs1057524625
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn) rs570799464

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