ClinVar Miner

List of variants in gene SURF1 reported as uncertain significance for Leigh syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_003172.3(SURF1):c.118A>T (p.Arg40Trp) rs781831910
NM_003172.3(SURF1):c.185T>G (p.Leu62Arg)
NM_003172.3(SURF1):c.211G>C (p.Val71Leu) rs147993882
NM_003172.3(SURF1):c.324-10_324-9insAGA rs1299986010
NM_003172.3(SURF1):c.350A>C (p.Tyr117Ser) rs145615218
NM_003172.3(SURF1):c.352A>T (p.Arg118Trp) rs201492662
NM_003172.3(SURF1):c.366C>T (p.Val122=) rs886063630
NM_003172.3(SURF1):c.54+10G>A rs587598397
NM_003172.3(SURF1):c.54+9C>G rs587675928
NM_003172.3(SURF1):c.643C>G (p.Pro215Ala) rs147165855
NM_003172.3(SURF1):c.736A>G (p.Ile246Val) rs782480169
NM_003172.3(SURF1):c.745A>G (p.Asn249Asp) rs587669420
NM_003172.3(SURF1):c.752-4dup rs1159512660
NM_003172.3(SURF1):c.808G>A (p.Glu270Lys) rs781924765
NM_003172.3(SURF1):c.809_826dup (p.Ile275_Val276insGluHisLeuGlnTyrIle)
NM_003172.3(SURF1):c.814_815insGAGCATC (p.Leu272Argfs) rs1554768224
NM_003172.3(SURF1):c.893C>G (p.Pro298Arg) rs201822068

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