ClinVar Miner

List of variants in gene SURF1 reported as likely benign for Leigh syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882
NM_003172.4(SURF1):c.280T>C (p.Leu94=) rs28615629
NM_003172.4(SURF1):c.303G>A (p.Glu101=) rs1554768670
NM_003172.4(SURF1):c.321C>T (p.Ala107=) rs141425824
NM_003172.4(SURF1):c.54+9_54+22del rs782659731
NM_003172.4(SURF1):c.543C>T (p.Phe181=) rs62637580
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079
NM_003172.4(SURF1):c.604G>C (p.Asp202His) rs72619327
NM_003172.4(SURF1):c.687T>C (p.Tyr229=) rs373154583
NM_003172.4(SURF1):c.855A>G (p.Thr285=) rs956430151
NM_003172.4(SURF1):c.879C>T (p.Phe293=) rs145088629
NM_003172.4(SURF1):c.900G>C (p.Val300=) rs781873188

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