ClinVar Miner

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

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Total variants: 38
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HGVS dbSNP
NM_024334.2(TMEM43):c.*20C>T rs369461997
NM_024334.2(TMEM43):c.-11C>T rs767001935
NM_024334.2(TMEM43):c.-2C>T rs754747623
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.1141G>A (p.Gly381Ser) rs767916602
NM_024334.2(TMEM43):c.1164T>G (p.Leu388=) rs1035334505
NM_024334.2(TMEM43):c.162+227A>G
NM_024334.2(TMEM43):c.180G>A (p.Thr60=) rs765703685
NM_024334.2(TMEM43):c.246G>A (p.Pro82=) rs376098518
NM_024334.2(TMEM43):c.279C>T (p.Gly93=) rs149883381
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.392+254C>T
NM_024334.2(TMEM43):c.392+9T>C rs780392028
NM_024334.2(TMEM43):c.442+12G>C rs530183718
NM_024334.2(TMEM43):c.443-12C>G
NM_024334.2(TMEM43):c.443-48G>A
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.584-5dup rs1553603140
NM_024334.2(TMEM43):c.630G>A (p.Lys210=) rs1057523392
NM_024334.2(TMEM43):c.747C>T (p.Ser249=) rs549809535
NM_024334.2(TMEM43):c.777C>T (p.His259=) rs143958148
NM_024334.2(TMEM43):c.781-13G>T rs202207425
NM_024334.2(TMEM43):c.829A>T (p.Thr277Ser) rs532872056
NM_024334.2(TMEM43):c.882+17A>G rs370443570
NM_024334.2(TMEM43):c.882+3G>A rs1057524625
NM_024334.2(TMEM43):c.883-340C>T
NM_024334.2(TMEM43):c.896G>C (p.Arg299Thr) rs139590716
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

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