ClinVar Miner

List of variants in gene SLC25A3 studied for not provided

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Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_002635.4(SLC25A3):c.814+249G>A rs2083280 0.99922
NM_002635.4(SLC25A3):c.*211T>A rs76488843 0.11857
NM_002635.4(SLC25A3):c.460-236C>T rs74440450 0.05465
NM_005888.3(SLC25A3):c.-78G>A rs28372744 0.04592
NM_002635.4(SLC25A3):c.279+292A>T rs79625667 0.03982
NM_002635.4(SLC25A3):c.436T>C (p.Leu146=) rs11544648 0.03180
NM_002635.4(SLC25A3):c.157+241T>C rs74933553 0.03140
NM_002635.4(SLC25A3):c.*221T>G rs115173420 0.02826
NM_002635.4(SLC25A3):c.641+171C>G rs12308813 0.02719
NM_002635.4(SLC25A3):c.814+227C>T rs2372392 0.02650
NM_002635.4(SLC25A3):c.459+92T>C rs12315528 0.01636
NM_002635.4(SLC25A3):c.641+221T>C rs190019826 0.01530
NM_002635.4(SLC25A3):c.641+228G>A rs181791005 0.01528
NM_002635.4(SLC25A3):c.641+234A>G rs528512271 0.01524
NM_005888.3(SLC25A3):c.-258G>A rs139200797 0.01297
NM_002635.4(SLC25A3):c.460-36G>A rs117230192 0.01120
NM_002635.4(SLC25A3):c.460-177T>C rs115498097 0.00910
NM_002635.4(SLC25A3):c.460-85G>A rs145321412 0.00613
NM_002635.4(SLC25A3):c.280-272C>T rs138230223 0.00534
NM_002635.4(SLC25A3):c.280-133del rs1005159513 0.00531
NM_005888.3(SLC25A3):c.-92G>A rs115763433 0.00509
NM_002635.4(SLC25A3):c.460-70A>G rs114538483 0.00481
NM_002635.4(SLC25A3):c.*102C>A rs74604883 0.00438
NM_002635.4(SLC25A3):c.460-97A>G rs542496477 0.00396
NM_002635.4(SLC25A3):c.*208T>C rs141912474 0.00336
NM_002635.4(SLC25A3):c.157+71C>G rs556001030 0.00276
NM_002635.4(SLC25A3):c.925+4G>A rs201617025 0.00194
NM_002635.4(SLC25A3):c.595T>C (p.Leu199=) rs113045059 0.00120
NM_002635.4(SLC25A3):c.1066A>C (p.Lys356Gln) rs79081160 0.00038
NM_002635.4(SLC25A3):c.280-16C>T rs747042248 0.00030
NM_002635.4(SLC25A3):c.52C>T (p.His18Tyr) rs373087005 0.00022
NM_002635.4(SLC25A3):c.471T>C (p.Tyr157=) rs531425336 0.00009
NM_002635.4(SLC25A3):c.55C>T (p.Leu19=) rs373222952 0.00007
NM_002635.4(SLC25A3):c.61C>T (p.Leu21=) rs148667033 0.00006
NM_002635.4(SLC25A3):c.641+7A>G rs373128658 0.00006
NM_002635.4(SLC25A3):c.761G>A (p.Ser254Asn) rs117836188 0.00005
NM_002635.4(SLC25A3):c.585T>C (p.Tyr195=) rs535417891 0.00004
NM_002635.4(SLC25A3):c.814+34T>C rs370423420 0.00004
NM_002635.4(SLC25A3):c.666C>T (p.Leu222=) rs771170406 0.00003
NM_002635.4(SLC25A3):c.158-303A>G rs745305932 0.00002
NM_002635.4(SLC25A3):c.312C>T (p.Asn104=) rs774087747 0.00002
NM_002635.4(SLC25A3):c.75T>C (p.Gly25=) rs972857493 0.00002
NM_002635.4(SLC25A3):c.38C>T (p.Pro13Leu) rs1331004642 0.00001
NM_002635.4(SLC25A3):c.459+32G>C rs529253379 0.00001
NM_002635.4(SLC25A3):c.758G>A (p.Arg253His) rs1169669937 0.00001
NM_002635.4(SLC25A3):c.928G>A (p.Val310Ile) rs200537764 0.00001
NC_000012.11:g.(?_98987757)_(98989355_?)del
NC_000012.11:g.(?_98987757)_(98995306_?)dup
NC_000012.11:g.(?_98993713)_(98993925_?)del
NM_002635.4(SLC25A3):c.1002C>T (p.Ser334=) rs569468077
NM_002635.4(SLC25A3):c.1003G>A (p.Val335Met) rs11544657
NM_002635.4(SLC25A3):c.1005G>C (p.Val335=)
NM_002635.4(SLC25A3):c.1011C>T (p.Val337=)
NM_002635.4(SLC25A3):c.1013A>C (p.Tyr338Ser)
NM_002635.4(SLC25A3):c.1017C>A (p.Phe339Leu)
NM_002635.4(SLC25A3):c.1023T>A (p.Leu341=)
NM_002635.4(SLC25A3):c.1033C>G (p.Pro345Ala)
NM_002635.4(SLC25A3):c.1037C>T (p.Pro346Leu)
NM_002635.4(SLC25A3):c.103G>C (p.Gly35Arg)
NM_002635.4(SLC25A3):c.105G>T (p.Gly35=)
NM_002635.4(SLC25A3):c.111G>A (p.Thr37=)
NM_002635.4(SLC25A3):c.11C>T (p.Ser4Phe)
NM_002635.4(SLC25A3):c.122G>C (p.Arg41Pro)
NM_002635.4(SLC25A3):c.126C>G (p.Arg42=)
NM_002635.4(SLC25A3):c.147C>A (p.Ala49=) rs370367708
NM_002635.4(SLC25A3):c.147C>G (p.Ala49=)
NM_002635.4(SLC25A3):c.150C>T (p.Ala50=)
NM_002635.4(SLC25A3):c.157+18C>T
NM_002635.4(SLC25A3):c.157+19C>T
NM_002635.4(SLC25A3):c.157+20A>G
NM_002635.4(SLC25A3):c.158-301C>G
NM_002635.4(SLC25A3):c.158-314T>C
NM_002635.4(SLC25A3):c.18G>A (p.Ala6=)
NM_002635.4(SLC25A3):c.21C>T (p.His7=)
NM_002635.4(SLC25A3):c.22C>G (p.Leu8Val)
NM_002635.4(SLC25A3):c.22C>T (p.Leu8=)
NM_002635.4(SLC25A3):c.246G>A (p.Val82=)
NM_002635.4(SLC25A3):c.280-17T>C
NM_002635.4(SLC25A3):c.280-1G>C
NM_002635.4(SLC25A3):c.280-6A>G
NM_002635.4(SLC25A3):c.291A>G (p.Gln97=)
NM_002635.4(SLC25A3):c.336G>A (p.Glu112=)
NM_002635.4(SLC25A3):c.346C>T (p.Arg116Cys)
NM_002635.4(SLC25A3):c.347G>A (p.Arg116His)
NM_002635.4(SLC25A3):c.357T>G (p.Ala119=)
NM_002635.4(SLC25A3):c.358A>G (p.Lys120Glu)
NM_002635.4(SLC25A3):c.36C>A (p.Asn12Lys)
NM_002635.4(SLC25A3):c.36C>T (p.Asn12=)
NM_002635.4(SLC25A3):c.372G>A (p.Pro124=)
NM_002635.4(SLC25A3):c.408G>A (p.Lys136=)
NM_002635.4(SLC25A3):c.414C>T (p.Gly138=)
NM_002635.4(SLC25A3):c.446A>G (p.Asn149Ser)
NM_002635.4(SLC25A3):c.459+16T>C
NM_002635.4(SLC25A3):c.459+31del rs138634912
NM_002635.4(SLC25A3):c.460-6T>C
NM_002635.4(SLC25A3):c.460-7A>G
NM_002635.4(SLC25A3):c.464A>C (p.Asn155Thr)
NM_002635.4(SLC25A3):c.498T>A (p.Ala166=)
NM_002635.4(SLC25A3):c.49C>G (p.Pro17Ala) rs1294003725
NM_002635.4(SLC25A3):c.50C>T (p.Pro17Leu)
NM_002635.4(SLC25A3):c.516A>G (p.Glu172=)
NM_002635.4(SLC25A3):c.539C>T (p.Ala180Val)
NM_002635.4(SLC25A3):c.556A>G (p.Lys186Glu)
NM_002635.4(SLC25A3):c.56T>G (p.Leu19Arg)
NM_002635.4(SLC25A3):c.570A>G (p.Gln190=)
NM_002635.4(SLC25A3):c.5_14del (p.Phe2fs)
NM_002635.4(SLC25A3):c.621_622del (p.Tyr207_Lys208delinsTer)
NM_002635.4(SLC25A3):c.641+75_641+77dup rs982573378
NM_002635.4(SLC25A3):c.641C>T (p.Ala214Val)
NM_002635.4(SLC25A3):c.642-13C>T
NM_002635.4(SLC25A3):c.642-13_642-12del
NM_002635.4(SLC25A3):c.642-2A>G rs2153287079
NM_002635.4(SLC25A3):c.649A>G (p.Lys217Glu)
NM_002635.4(SLC25A3):c.659C>T (p.Ala220Val) rs202241756
NM_002635.4(SLC25A3):c.65T>G (p.Val22Gly)
NM_002635.4(SLC25A3):c.684A>G (p.Pro228=)
NM_002635.4(SLC25A3):c.69C>A (p.His23Gln) rs863224206
NM_002635.4(SLC25A3):c.6C>G (p.Phe2Leu)
NM_002635.4(SLC25A3):c.730C>T (p.Leu244=)
NM_002635.4(SLC25A3):c.732G>A (p.Leu244=)
NM_002635.4(SLC25A3):c.74G>A (p.Gly25Asp)
NM_002635.4(SLC25A3):c.757C>T (p.Arg253Cys)
NM_002635.4(SLC25A3):c.79G>C (p.Gly27Arg)
NM_002635.4(SLC25A3):c.811A>G (p.Ile271Val)
NM_002635.4(SLC25A3):c.814+15G>C rs745953514
NM_002635.4(SLC25A3):c.814+20C>G
NM_002635.4(SLC25A3):c.814+302dup rs113881450
NM_002635.4(SLC25A3):c.814+5G>T rs200029342
NM_002635.4(SLC25A3):c.81G>A (p.Gly27=)
NM_002635.4(SLC25A3):c.81G>C (p.Gly27=)
NM_002635.4(SLC25A3):c.832A>G (p.Ile278Val)
NM_002635.4(SLC25A3):c.84C>T (p.Asp28=)
NM_002635.4(SLC25A3):c.858G>T (p.Val286=) rs750516275
NM_002635.4(SLC25A3):c.885T>C (p.Gly295=)
NM_002635.4(SLC25A3):c.889A>G (p.Ser297Gly)
NM_002635.4(SLC25A3):c.90C>G (p.Arg30=)
NM_002635.4(SLC25A3):c.925+11del
NM_002635.4(SLC25A3):c.925+16T>C
NM_002635.4(SLC25A3):c.925+18dup rs778050686
NM_002635.4(SLC25A3):c.925G>A (p.Gly309Ser)
NM_002635.4(SLC25A3):c.926-11G>A rs1555209035
NM_002635.4(SLC25A3):c.926-13C>G
NM_002635.4(SLC25A3):c.930A>G (p.Val310=)
NM_002635.4(SLC25A3):c.942G>A (p.Leu314=)
NM_002635.4(SLC25A3):c.957C>T (p.Ile319=)
NM_002635.4(SLC25A3):c.984G>A (p.Gln328=)
NM_002635.4(SLC25A3):c.9G>A (p.Ser3=)
NM_005888.4(SLC25A3):c.158-1G>C
NM_005888.4(SLC25A3):c.158-5_158-2del rs751357155
NM_005888.4(SLC25A3):c.159G>A (p.Glu53=) rs747423687
NM_005888.4(SLC25A3):c.174C>T (p.Asp58=)
NM_005888.4(SLC25A3):c.176A>G (p.Tyr59Cys)
NM_005888.4(SLC25A3):c.192C>G (p.Phe64Leu)

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