ClinVar Miner

List of variants studied for Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_012123.4(MTO1):c.1894C>T (p.Leu632=) rs117757245 0.00506
NM_012123.4(MTO1):c.1129+246G>A rs118010902 0.00049
NM_012123.4(MTO1):c.1222A>G (p.Ile408Val) rs149407452 0.00004
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) rs748152539 0.00004
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_012123.4(MTO1):c.514C>T (p.Arg172Cys) rs370046018 0.00003
NM_012123.4(MTO1):c.1390C>T (p.Arg464Cys) rs1459252796 0.00002
NM_012123.4(MTO1):c.535+5G>A rs1405997705 0.00001
NM_012123.4(MTO1):c.1393A>G (p.Met465Val) rs1000432861
NM_012123.4(MTO1):c.605T>C (p.Val202Ala) rs1206431304

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