ClinVar Miner

List of variants in gene SURF1 reported as pathogenic for Leigh syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.281dup (p.Leu94fs)
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.32_38dup (p.Leu16fs) rs1410388157
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.574C>T (p.Arg192Trp) rs782190413
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter) rs147816470
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter) rs782623477
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter) rs121918657
NM_003172.4(SURF1):c.752-1G>C rs1391748504
NM_003172.4(SURF1):c.756_757CA[1] (p.Thr253fs) rs782349178
NM_003172.4(SURF1):c.772C>T (p.Pro258Ser) rs1053850536
NM_003172.4(SURF1):c.790_791AG[1] (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) rs782161777
NM_003172.4(SURF1):c.833+1G>A rs782609482
NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs) rs782316919

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