ClinVar Miner

List of variants in gene SURF1 studied for Leigh syndrome

Included ClinVar conditions (9):
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Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP
NM_003172.3(SURF1):c.-37C>T rs523304
NM_003172.3(SURF1):c.754_755delAG (p.Ser252Hisfs) rs782007828
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.106+1G>C rs863224926
NM_003172.4(SURF1):c.118A>T (p.Arg40Trp) rs781831910
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216
NM_003172.4(SURF1):c.185T>G (p.Leu62Arg)
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.281dup (p.Leu94fs)
NM_003172.4(SURF1):c.303G>A (p.Glu101=) rs1554768670
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.324-10_324-9insAGA rs1299986010
NM_003172.4(SURF1):c.32_38dup (p.Leu16fs) rs1410388157
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.465_466del (p.Thr156fs) rs1564349176
NM_003172.4(SURF1):c.504C>A (p.Cys168Ter) rs1564349087
NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr) rs587753385
NM_003172.4(SURF1):c.54+10G>A rs587598397
NM_003172.4(SURF1):c.54+9C>G rs587675928
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.574C>T (p.Arg192Trp) rs782190413
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter) rs147816470
NM_003172.4(SURF1):c.588+1G>A rs1219762677
NM_003172.4(SURF1):c.603G>A (p.Val201=) rs782635006
NM_003172.4(SURF1):c.604G>C (p.Asp202His) rs72619327
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003172.4(SURF1):c.643C>G (p.Pro215Ala) rs147165855
NM_003172.4(SURF1):c.687T>C (p.Tyr229=) rs373154583
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter) rs782623477
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.751+6T>C rs41296099
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter) rs121918657
NM_003172.4(SURF1):c.752-1G>C rs1391748504
NM_003172.4(SURF1):c.752-4dup rs1159512660
NM_003172.4(SURF1):c.756_757CA[1] (p.Thr253fs) rs782349178
NM_003172.4(SURF1):c.759dup (p.Val254fs) rs1554768246
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.794_795dup (p.Thr266fs)
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)
NM_003172.4(SURF1):c.833+1G>A rs782609482
NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs) rs782316919
NM_003172.4(SURF1):c.879C>T (p.Phe293=) rs145088629
NM_003172.4(SURF1):c.883C>T (p.Arg295Cys) rs147312193
NM_003172.4(SURF1):c.893C>G (p.Pro298Arg) rs201822068
NM_003172.4(SURF1):c.897del (p.Val300fs) rs782010013

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