ClinVar Miner

List of variants in gene TMEM126A studied for cranial nerve neuropathy

Included ClinVar conditions (197):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_032273.4(TMEM126A):c.395+10A>G rs2196168 0.28103
NM_032273.4(TMEM126A):c.395+5G>A rs115906592 0.00680
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln) rs146573578 0.00247
NM_032273.4(TMEM126A):c.562T>A (p.Ser188Thr) rs34397695 0.00240
NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly) rs140047528 0.00239
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=) rs36100288 0.00220
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His) rs11556797 0.00161
NM_032273.4(TMEM126A):c.280+14C>T rs117453673 0.00039
NM_032273.4(TMEM126A):c.87G>C (p.Arg29Ser) rs142717432 0.00011
NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter) rs121434508 0.00001
NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val) rs546358774 0.00001
NM_032273.4(TMEM126A):c.487A>G (p.Ile163Val) rs886048713 0.00001
NM_032273.4(TMEM126A):c.502A>G (p.Met168Val) rs886048714 0.00001
NM_032273.4(TMEM126A):c.20A>G (p.Asn7Ser) rs768503384
NM_032273.4(TMEM126A):c.329G>A (p.Gly110Asp) rs374124838
NM_032273.4(TMEM126A):c.368T>C (p.Ile123Thr) rs999281366
NM_032273.4(TMEM126A):c.563C>A (p.Ser188Tyr) rs2082541296

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