ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_003172.4(SURF1):c.*47G>A
NM_003172.4(SURF1):c.*93C>T
NM_003172.4(SURF1):c.106+15C>G
NM_003172.4(SURF1):c.118A>T (p.Arg40Trp) rs781831910
NM_003172.4(SURF1):c.185T>G (p.Leu62Arg) rs782125974
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882
NM_003172.4(SURF1):c.226T>C (p.Leu76=)
NM_003172.4(SURF1):c.251G>C (p.Arg84Pro)
NM_003172.4(SURF1):c.321C>T (p.Ala107=) rs141425824
NM_003172.4(SURF1):c.322G>A (p.Asp108Asn) rs863224226
NM_003172.4(SURF1):c.324-10_324-9insAGA rs1299986010
NM_003172.4(SURF1):c.328A>G (p.Met110Val)
NM_003172.4(SURF1):c.350A>C (p.Tyr117Ser) rs145615218
NM_003172.4(SURF1):c.352A>T (p.Arg118Trp) rs201492662
NM_003172.4(SURF1):c.366C>T (p.Val122=) rs886063630
NM_003172.4(SURF1):c.409C>T (p.Arg137Trp) rs373551988
NM_003172.4(SURF1):c.412A>C (p.Thr138Pro)
NM_003172.4(SURF1):c.437C>T (p.Ala146Val)
NM_003172.4(SURF1):c.439C>T (p.Arg147Trp)
NM_003172.4(SURF1):c.507C>T (p.Thr169=)
NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr) rs587753385
NM_003172.4(SURF1):c.54+10G>A rs587598397
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser) rs200702528
NM_003172.4(SURF1):c.591T>A (p.Ile197=)
NM_003172.4(SURF1):c.629C>T (p.Thr210Ile)
NM_003172.4(SURF1):c.643C>G (p.Pro215Ala) rs147165855
NM_003172.4(SURF1):c.706G>A (p.Ala236Thr)
NM_003172.4(SURF1):c.736A>G (p.Ile246Val) rs782480169
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp) rs587669420
NM_003172.4(SURF1):c.752-4dup rs1159512660
NM_003172.4(SURF1):c.801G>A (p.Leu267=)
NM_003172.4(SURF1):c.804G>C (p.Arg268Ser)
NM_003172.4(SURF1):c.808G>A (p.Glu270Lys) rs781924765
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) rs782161777
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup) rs782488388
NM_003172.4(SURF1):c.823A>C (p.Ile275Leu) rs1050473947
NM_003172.4(SURF1):c.826G>A (p.Val276Met) rs141561701
NM_003172.4(SURF1):c.836A>G (p.Tyr279Cys)
NM_003172.4(SURF1):c.893C>G (p.Pro298Arg) rs201822068
NM_003172.4(SURF1):c.897del (p.Val300fs) rs782010013

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