ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 285
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HGVS dbSNP gnomAD frequency
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079 0.05492
NM_003172.4(SURF1):c.280T>C (p.Leu94=) rs28615629 0.04975
NM_003172.4(SURF1):c.543C>T (p.Phe181=) rs62637580 0.01036
NM_003172.4(SURF1):c.604G>C (p.Asp202His) rs72619327 0.00517
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882 0.00099
NM_003172.4(SURF1):c.687T>C (p.Tyr229=) rs373154583 0.00030
NM_003172.4(SURF1):c.833+13C>T rs368685731 0.00027
NM_003172.4(SURF1):c.108G>A (p.Gly36=) rs201675965 0.00024
NM_003172.4(SURF1):c.657G>A (p.Glu219=) rs149494670 0.00019
NM_003172.4(SURF1):c.833+15G>A rs202237153 0.00017
NM_003172.4(SURF1):c.240+9C>T rs376459836 0.00009
NM_003172.4(SURF1):c.833+14G>A rs375695890 0.00008
NM_003172.4(SURF1):c.879C>T (p.Phe293=) rs145088629 0.00008
NM_003172.4(SURF1):c.321C>T (p.Ala107=) rs141425824 0.00007
NM_003172.4(SURF1):c.807C>T (p.Asn269=) rs150726485 0.00006
NM_003172.4(SURF1):c.825C>T (p.Ile275=) rs372660779 0.00006
NM_003172.4(SURF1):c.507C>T (p.Thr169=) rs782614599 0.00005
NM_003172.4(SURF1):c.834-4C>T rs375626121 0.00005
NM_003172.4(SURF1):c.324-11T>C rs375398247 0.00004
NM_003172.4(SURF1):c.36G>A (p.Arg12=) rs888052160 0.00004
NM_003172.4(SURF1):c.594G>A (p.Glu198=) rs144427528 0.00004
NM_003172.4(SURF1):c.834-19G>A rs1427282719 0.00004
NM_003172.4(SURF1):c.447C>T (p.Gly149=) rs782511878 0.00002
NM_003172.4(SURF1):c.516-8T>C rs374829956 0.00002
NM_003172.4(SURF1):c.589-9C>G rs375758001 0.00002
NM_003172.4(SURF1):c.834-5C>T rs370520197 0.00002
NM_003172.4(SURF1):c.106+15C>G rs781892153 0.00001
NM_003172.4(SURF1):c.107-14G>A rs782090285 0.00001
NM_003172.4(SURF1):c.107-19G>A rs782610286 0.00001
NM_003172.4(SURF1):c.225C>T (p.Gly75=) rs948692485 0.00001
NM_003172.4(SURF1):c.228G>A (p.Leu76=) rs1334031754 0.00001
NM_003172.4(SURF1):c.240+10G>A rs782763797 0.00001
NM_003172.4(SURF1):c.241-20C>T rs368476982 0.00001
NM_003172.4(SURF1):c.241-7A>C rs997493975 0.00001
NM_003172.4(SURF1):c.309C>T (p.Val103=) rs782203738 0.00001
NM_003172.4(SURF1):c.323+15G>C rs1836518077 0.00001
NM_003172.4(SURF1):c.324-5T>C rs140805315 0.00001
NM_003172.4(SURF1):c.366C>T (p.Val122=) rs886063630 0.00001
NM_003172.4(SURF1):c.603G>A (p.Val201=) rs782635006 0.00001
NM_003172.4(SURF1):c.708C>A (p.Ala236=) rs782596103 0.00001
NM_003172.4(SURF1):c.751+9T>C rs782649117 0.00001
NM_003172.4(SURF1):c.752-4A>C rs1458022944 0.00001
NM_003172.4(SURF1):c.801G>A (p.Leu267=) rs782120692 0.00001
NM_003172.4(SURF1):c.833+11A>G rs1036443876 0.00001
NM_003172.4(SURF1):c.897T>C (p.Gly299=) rs76574453 0.00001
NM_003172.4(SURF1):c.900G>C (p.Val300=) rs781873188 0.00001
NM_003172.4(SURF1):c.106+10G>A
NM_003172.4(SURF1):c.106+12A>G
NM_003172.4(SURF1):c.106+14G>A
NM_003172.4(SURF1):c.106+15C>T rs781892153
NM_003172.4(SURF1):c.106+15_106+16insA
NM_003172.4(SURF1):c.106+16C>A
NM_003172.4(SURF1):c.106+16C>G
NM_003172.4(SURF1):c.106+16C>T
NM_003172.4(SURF1):c.106+18G>C
NM_003172.4(SURF1):c.106+19G>A
NM_003172.4(SURF1):c.106+7G>A
NM_003172.4(SURF1):c.106+7del
NM_003172.4(SURF1):c.107-15T>C
NM_003172.4(SURF1):c.107-17G>A
NM_003172.4(SURF1):c.107-17G>T
NM_003172.4(SURF1):c.107-4C>G
NM_003172.4(SURF1):c.107-5T>C
NM_003172.4(SURF1):c.107-8C>T
NM_003172.4(SURF1):c.108G>C (p.Gly36=)
NM_003172.4(SURF1):c.126C>T (p.Ser42=)
NM_003172.4(SURF1):c.129A>G (p.Arg43=)
NM_003172.4(SURF1):c.168G>A (p.Ala56=)
NM_003172.4(SURF1):c.171A>G (p.Glu57=)
NM_003172.4(SURF1):c.180C>T (p.Ser60=)
NM_003172.4(SURF1):c.189G>A (p.Gln63=)
NM_003172.4(SURF1):c.18G>A (p.Ala6=)
NM_003172.4(SURF1):c.18G>T (p.Ala6=) rs1256975566
NM_003172.4(SURF1):c.195C>T (p.Val65=)
NM_003172.4(SURF1):c.201C>T (p.Leu67=)
NM_003172.4(SURF1):c.204C>G (p.Leu68=)
NM_003172.4(SURF1):c.204C>T (p.Leu68=)
NM_003172.4(SURF1):c.211G>T (p.Val71Leu) rs147993882
NM_003172.4(SURF1):c.219C>G (p.Ala73=)
NM_003172.4(SURF1):c.226T>C (p.Leu76=) rs782036327
NM_003172.4(SURF1):c.234A>G (p.Thr78=)
NM_003172.4(SURF1):c.240+11G>C
NM_003172.4(SURF1):c.240+15C>T
NM_003172.4(SURF1):c.240+15_240+21del rs782039658
NM_003172.4(SURF1):c.240+17G>A
NM_003172.4(SURF1):c.240+9C>A
NM_003172.4(SURF1):c.241-11T>C
NM_003172.4(SURF1):c.241-12C>G
NM_003172.4(SURF1):c.241-14C>T
NM_003172.4(SURF1):c.241-15G>C
NM_003172.4(SURF1):c.241-15G>T rs1247921829
NM_003172.4(SURF1):c.241-16T>C
NM_003172.4(SURF1):c.241-7A>G rs997493975
NM_003172.4(SURF1):c.24G>A (p.Gln8=)
NM_003172.4(SURF1):c.252G>T (p.Arg84=)
NM_003172.4(SURF1):c.262C>T (p.Leu88=)
NM_003172.4(SURF1):c.267C>T (p.Asn89=)
NM_003172.4(SURF1):c.276A>C (p.Ala92=)
NM_003172.4(SURF1):c.276A>G (p.Ala92=)
NM_003172.4(SURF1):c.27G>A (p.Leu9=)
NM_003172.4(SURF1):c.27G>C (p.Leu9=)
NM_003172.4(SURF1):c.282G>A (p.Leu94=)
NM_003172.4(SURF1):c.297G>C (p.Leu99=)
NM_003172.4(SURF1):c.303G>A (p.Glu101=) rs1554768670
NM_003172.4(SURF1):c.306T>G (p.Pro102=)
NM_003172.4(SURF1):c.309C>A (p.Val103=)
NM_003172.4(SURF1):c.30G>A (p.Gly10=)
NM_003172.4(SURF1):c.30G>T (p.Gly10=)
NM_003172.4(SURF1):c.321C>A (p.Ala107=)
NM_003172.4(SURF1):c.321C>G (p.Ala107=)
NM_003172.4(SURF1):c.323+11G>A
NM_003172.4(SURF1):c.323+11G>T
NM_003172.4(SURF1):c.323+12G>C
NM_003172.4(SURF1):c.323+14T>G
NM_003172.4(SURF1):c.323+18C>T
NM_003172.4(SURF1):c.323+19C>G rs368538379
NM_003172.4(SURF1):c.323+19C>T
NM_003172.4(SURF1):c.323+20C>A rs376340323
NM_003172.4(SURF1):c.323+20C>G rs376340323
NM_003172.4(SURF1):c.323+20C>T
NM_003172.4(SURF1):c.323+7G>A
NM_003172.4(SURF1):c.323+7G>C
NM_003172.4(SURF1):c.323+9A>C
NM_003172.4(SURF1):c.324-15C>T
NM_003172.4(SURF1):c.324-19T>C rs369080027
NM_003172.4(SURF1):c.324-19T>G rs369080027
NM_003172.4(SURF1):c.324-6A>G
NM_003172.4(SURF1):c.334C>T (p.Leu112=)
NM_003172.4(SURF1):c.343C>T (p.Leu115=) rs1255547783
NM_003172.4(SURF1):c.348G>A (p.Glu116=)
NM_003172.4(SURF1):c.34C>A (p.Arg12=)
NM_003172.4(SURF1):c.357A>G (p.Pro119=)
NM_003172.4(SURF1):c.360G>A (p.Val120=)
NM_003172.4(SURF1):c.372G>A (p.Gly124=)
NM_003172.4(SURF1):c.372G>T (p.Gly124=)
NM_003172.4(SURF1):c.384T>C (p.His128=)
NM_003172.4(SURF1):c.387C>A (p.Ser129=)
NM_003172.4(SURF1):c.426T>C (p.Pro142=)
NM_003172.4(SURF1):c.42G>A (p.Ala14=)
NM_003172.4(SURF1):c.432G>A (p.Arg144=)
NM_003172.4(SURF1):c.435G>A (p.Glu145=)
NM_003172.4(SURF1):c.441G>A (p.Arg147=)
NM_003172.4(SURF1):c.444G>A (p.Glu148=)
NM_003172.4(SURF1):c.453C>T (p.Leu151=)
NM_003172.4(SURF1):c.456C>A (p.Ile152=)
NM_003172.4(SURF1):c.459C>A (p.Ser153=)
NM_003172.4(SURF1):c.45G>C (p.Gly15=)
NM_003172.4(SURF1):c.45G>T (p.Gly15=)
NM_003172.4(SURF1):c.468T>C (p.Thr156=)
NM_003172.4(SURF1):c.480C>T (p.Ala160=)
NM_003172.4(SURF1):c.486G>C (p.Val162=)
NM_003172.4(SURF1):c.489C>G (p.Val163=)
NM_003172.4(SURF1):c.489C>T (p.Val163=)
NM_003172.4(SURF1):c.492T>A (p.Thr164=)
NM_003172.4(SURF1):c.495C>T (p.Pro165=)
NM_003172.4(SURF1):c.501C>T (p.His167=)
NM_003172.4(SURF1):c.510C>T (p.Asp170=)
NM_003172.4(SURF1):c.511C>T (p.Leu171=)
NM_003172.4(SURF1):c.515+12A>C
NM_003172.4(SURF1):c.515+12A>G
NM_003172.4(SURF1):c.515+12_515+13del
NM_003172.4(SURF1):c.515+13T>C rs782781013
NM_003172.4(SURF1):c.515+14G>A
NM_003172.4(SURF1):c.515+15T>A
NM_003172.4(SURF1):c.515+15_515+17del
NM_003172.4(SURF1):c.515+17G>A
NM_003172.4(SURF1):c.516-11C>G rs782375599
NM_003172.4(SURF1):c.516-11C>T rs782375599
NM_003172.4(SURF1):c.516-12del rs781784237
NM_003172.4(SURF1):c.516-20T>C
NM_003172.4(SURF1):c.516-6C>T
NM_003172.4(SURF1):c.525C>T (p.Ile175=) rs966755440
NM_003172.4(SURF1):c.531A>G (p.Val177=)
NM_003172.4(SURF1):c.552G>A (p.Arg184=)
NM_003172.4(SURF1):c.573C>T (p.Thr191=)
NM_003172.4(SURF1):c.576G>A (p.Arg192=)
NM_003172.4(SURF1):c.582A>G (p.Lys194=) rs2119081390
NM_003172.4(SURF1):c.585C>T (p.Gly195=)
NM_003172.4(SURF1):c.588+10A>G
NM_003172.4(SURF1):c.588+11T>A
NM_003172.4(SURF1):c.588+11T>C rs1340125652
NM_003172.4(SURF1):c.588+12G>A
NM_003172.4(SURF1):c.588+15C>G
NM_003172.4(SURF1):c.588+15C>T
NM_003172.4(SURF1):c.588+16T>C
NM_003172.4(SURF1):c.588+17C>T
NM_003172.4(SURF1):c.588+19T>C
NM_003172.4(SURF1):c.588+8A>T
NM_003172.4(SURF1):c.588+9C>T
NM_003172.4(SURF1):c.589-10T>G
NM_003172.4(SURF1):c.589-12C>T
NM_003172.4(SURF1):c.589-14A>G
NM_003172.4(SURF1):c.589-17C>T
NM_003172.4(SURF1):c.589-18A>C
NM_003172.4(SURF1):c.589-19C>G
NM_003172.4(SURF1):c.589-20T>C
NM_003172.4(SURF1):c.589-4A>G rs2119081254
NM_003172.4(SURF1):c.589-5T>C
NM_003172.4(SURF1):c.589-7T>C
NM_003172.4(SURF1):c.589-8C>T
NM_003172.4(SURF1):c.589-9C>T
NM_003172.4(SURF1):c.606C>T (p.Asp202=)
NM_003172.4(SURF1):c.609C>T (p.Leu203=)
NM_003172.4(SURF1):c.621G>A (p.Val207=)
NM_003172.4(SURF1):c.627G>A (p.Leu209=)
NM_003172.4(SURF1):c.630A>G (p.Thr210=)
NM_003172.4(SURF1):c.636C>T (p.Thr212=) rs1293829440
NM_003172.4(SURF1):c.639G>A (p.Arg213=)
NM_003172.4(SURF1):c.648T>C (p.Phe216=)
NM_003172.4(SURF1):c.654T>C (p.Pro218=)
NM_003172.4(SURF1):c.678C>T (p.His226=) rs2119081052
NM_003172.4(SURF1):c.694C>T (p.Leu232=)
NM_003172.4(SURF1):c.6G>A (p.Ala2=) rs997217991
NM_003172.4(SURF1):c.708C>T (p.Ala236=)
NM_003172.4(SURF1):c.723A>G (p.Ala241=)
NM_003172.4(SURF1):c.732C>T (p.Ile244=)
NM_003172.4(SURF1):c.738T>C (p.Ile246=)
NM_003172.4(SURF1):c.741T>C (p.Asp247=)
NM_003172.4(SURF1):c.747C>T (p.Asn249=)
NM_003172.4(SURF1):c.751+10G>A
NM_003172.4(SURF1):c.751+12A>G
NM_003172.4(SURF1):c.751+13C>T
NM_003172.4(SURF1):c.751+15A>G
NM_003172.4(SURF1):c.751+16G>T
NM_003172.4(SURF1):c.751+7T>C
NM_003172.4(SURF1):c.752-10G>C rs782262936
NM_003172.4(SURF1):c.752-11T>C
NM_003172.4(SURF1):c.752-14T>C
NM_003172.4(SURF1):c.752-14T>G rs781967602
NM_003172.4(SURF1):c.752-15_752-14del rs2119080171
NM_003172.4(SURF1):c.752-17G>C
NM_003172.4(SURF1):c.752-18A>G
NM_003172.4(SURF1):c.752-20dup
NM_003172.4(SURF1):c.752-8C>T
NM_003172.4(SURF1):c.753G>A (p.Gln251=)
NM_003172.4(SURF1):c.759A>G (p.Thr253=)
NM_003172.4(SURF1):c.762C>G (p.Val254=)
NM_003172.4(SURF1):c.765T>C (p.Pro255=)
NM_003172.4(SURF1):c.771A>C (p.Gly257=)
NM_003172.4(SURF1):c.771A>G (p.Gly257=)
NM_003172.4(SURF1):c.786A>G (p.Gln262=)
NM_003172.4(SURF1):c.789C>G (p.Thr263=)
NM_003172.4(SURF1):c.795T>C (p.Val265=)
NM_003172.4(SURF1):c.798T>C (p.Thr266=)
NM_003172.4(SURF1):c.799C>T (p.Leu267=)
NM_003172.4(SURF1):c.814C>T (p.Leu272=)
NM_003172.4(SURF1):c.816G>A (p.Leu272=)
NM_003172.4(SURF1):c.822C>T (p.Tyr274=)
NM_003172.4(SURF1):c.828G>A (p.Val276=)
NM_003172.4(SURF1):c.831C>A (p.Thr277=)
NM_003172.4(SURF1):c.831C>G (p.Thr277=)
NM_003172.4(SURF1):c.831C>T (p.Thr277=)
NM_003172.4(SURF1):c.833+11A>T
NM_003172.4(SURF1):c.833+12G>T
NM_003172.4(SURF1):c.833+15G>C
NM_003172.4(SURF1):c.833+16C>T
NM_003172.4(SURF1):c.833+17C>T
NM_003172.4(SURF1):c.833+18C>G
NM_003172.4(SURF1):c.833+19T>C
NM_003172.4(SURF1):c.833+19T>G
NM_003172.4(SURF1):c.833+7C>T
NM_003172.4(SURF1):c.834-11T>C
NM_003172.4(SURF1):c.834-11T>G
NM_003172.4(SURF1):c.834-13_834-9dup
NM_003172.4(SURF1):c.834-14C>G
NM_003172.4(SURF1):c.834-15G>C
NM_003172.4(SURF1):c.834-17T>C
NM_003172.4(SURF1):c.834-6C>T
NM_003172.4(SURF1):c.846T>C (p.Ser282=)
NM_003172.4(SURF1):c.849A>T (p.Ala283=)
NM_003172.4(SURF1):c.855A>G (p.Thr285=) rs956430151
NM_003172.4(SURF1):c.858C>T (p.Ser286=)
NM_003172.4(SURF1):c.861C>T (p.Tyr287=)
NM_003172.4(SURF1):c.862C>T (p.Leu288=)
NM_003172.4(SURF1):c.864G>A (p.Leu288=)
NM_003172.4(SURF1):c.864G>T (p.Leu288=)
NM_003172.4(SURF1):c.87C>T (p.Leu29=)
NM_003172.4(SURF1):c.882A>G (p.Leu294=) rs2119079701
NM_003172.4(SURF1):c.882A>T (p.Leu294=)
NM_003172.4(SURF1):c.891A>C (p.Thr297=)
NM_003172.4(SURF1):c.891A>G (p.Thr297=)
NM_003172.4(SURF1):c.93C>T (p.Val31=) rs2119088398
NM_003172.4(SURF1):c.96C>T (p.Ser32=)
NM_003172.4(SURF1):c.9G>A (p.Ala3=)
NM_003172.4(SURF1):c.9G>T (p.Ala3=)

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