ClinVar Miner

List of variants reported for Leigh syndrome by Laboratory of Metabolic Disorders, Peking University First Hospital

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter) rs778120270 0.00002
NM_001136193.2(FASTKD2):c.1861del (p.Ser621fs) rs1574675683
NM_001136193.2(FASTKD2):c.810_820dup (p.Ser274fs) rs1574663066
NM_003172.4(SURF1):c.465_466del (p.Thr156fs) rs1564349176
NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr) rs587753385
NM_003172.4(SURF1):c.772C>T (p.Pro258Ser) rs1053850536
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) rs782161777

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