ClinVar Miner

List of variants in gene TMEM43 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) rs367910936 0.00013
NM_024334.3(TMEM43):c.214G>A (p.Val72Met) rs368603914 0.00006
NM_024334.3(TMEM43):c.679C>G (p.His227Asp) rs201460674 0.00005
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu) rs376514478 0.00004
NM_024334.3(TMEM43):c.121A>G (p.Met41Val) rs144334386 0.00004
NM_024334.3(TMEM43):c.661C>T (p.Arg221Cys) rs182464375 0.00003
NM_024334.3(TMEM43):c.859C>T (p.His287Tyr) rs780299346 0.00001
NM_024334.3(TMEM43):c.1123T>C (p.Trp375Arg) rs1695249790
NM_024334.3(TMEM43):c.839G>A (p.Gly280Glu) rs1559362201
NM_024334.3(TMEM43):c.964G>A (p.Gly322Ser) rs1231932407

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