ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

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Total variants: 8
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NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu) rs781016340
NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys) rs1366090807
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val) rs386834145
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val) rs1590020571
NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln) rs753386843
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) rs386834147
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012

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