ClinVar Miner

List of variants in gene IBA57 reported as likely benign for fatal multiple mitochondrial dysfunctions syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_001010867.4(IBA57):c.264C>G (p.Ala88=) rs13375853 0.01203
NM_001010867.4(IBA57):c.780C>T (p.Tyr260=) rs202126055 0.00040
NM_001010867.4(IBA57):c.341+9G>A rs370043210 0.00034
NM_001010867.4(IBA57):c.680-14T>G rs375942905 0.00028
NM_001010867.4(IBA57):c.930C>G (p.Phe310Leu) rs142734560 0.00019
NM_001010867.4(IBA57):c.204C>T (p.Pro68=) rs376235022 0.00017
NM_001010867.4(IBA57):c.801C>T (p.Ala267=) rs138699407 0.00012
NM_001010867.4(IBA57):c.1032C>T (p.Ala344=) rs371687353 0.00010
NM_001010867.4(IBA57):c.680-5T>A rs577050962 0.00008
NM_001010867.4(IBA57):c.150C>T (p.Cys50=) rs765132163 0.00007
NM_001010867.4(IBA57):c.162C>T (p.Asp54=) rs762720562 0.00006
NM_001010867.4(IBA57):c.342-14C>T rs368178420 0.00006
NM_001010867.4(IBA57):c.947A>C (p.Asn316Thr) rs200319163 0.00006
NM_001010867.4(IBA57):c.894G>A (p.Thr298=) rs142711871 0.00005
NM_001010867.4(IBA57):c.114T>C (p.Pro38=) rs1051788506 0.00004
NM_001010867.4(IBA57):c.837C>T (p.Leu279=) rs756776278 0.00003
NM_001010867.4(IBA57):c.138G>C (p.Ala46=) rs1037373507 0.00002
NM_001010867.4(IBA57):c.471G>A (p.Leu157=) rs540662509 0.00001
NM_001010867.4(IBA57):c.639C>T (p.Leu213=) rs751616087 0.00001
NM_001010867.4(IBA57):c.955C>T (p.Leu319=) rs186655921 0.00001
NM_001010867.4(IBA57):c.1005C>T (p.Ala335=)
NM_001010867.4(IBA57):c.1041G>T (p.Val347=)
NM_001010867.4(IBA57):c.147C>G (p.Ala49=)
NM_001010867.4(IBA57):c.156G>A (p.Arg52=) rs1571913232
NM_001010867.4(IBA57):c.157C>T (p.Leu53=)
NM_001010867.4(IBA57):c.159G>A (p.Leu53=)
NM_001010867.4(IBA57):c.172C>T (p.Leu58=)
NM_001010867.4(IBA57):c.195C>T (p.Asp65=)
NM_001010867.4(IBA57):c.208C>T (p.Leu70=)
NM_001010867.4(IBA57):c.255C>T (p.Ala85=)
NM_001010867.4(IBA57):c.264C>T (p.Ala88=)
NM_001010867.4(IBA57):c.27C>T (p.Gly9=)
NM_001010867.4(IBA57):c.285C>A (p.Gly95=)
NM_001010867.4(IBA57):c.285C>T (p.Gly95=) rs1276192566
NM_001010867.4(IBA57):c.298C>T (p.Leu100=) rs12132960
NM_001010867.4(IBA57):c.30C>T (p.Ala10=)
NM_001010867.4(IBA57):c.315G>A (p.Arg105=)
NM_001010867.4(IBA57):c.339C>T (p.Tyr113=)
NM_001010867.4(IBA57):c.33T>A (p.Thr11=)
NM_001010867.4(IBA57):c.341+20G>A
NM_001010867.4(IBA57):c.342-14CT[2]
NM_001010867.4(IBA57):c.342-15C>T
NM_001010867.4(IBA57):c.372C>T (p.Phe124=)
NM_001010867.4(IBA57):c.376C>T (p.Leu126=)
NM_001010867.4(IBA57):c.399G>A (p.Gln133=)
NM_001010867.4(IBA57):c.39G>A (p.Gly13=)
NM_001010867.4(IBA57):c.402C>A (p.Gly134=)
NM_001010867.4(IBA57):c.420C>G (p.Leu140=) rs555630458
NM_001010867.4(IBA57):c.420C>T (p.Leu140=) rs555630458
NM_001010867.4(IBA57):c.435C>A (p.Ile145=)
NM_001010867.4(IBA57):c.459G>A (p.Pro153=)
NM_001010867.4(IBA57):c.465G>C (p.Pro155=)
NM_001010867.4(IBA57):c.483G>T (p.Ala161=)
NM_001010867.4(IBA57):c.522G>A (p.Ser174=)
NM_001010867.4(IBA57):c.537A>C (p.Ala179=)
NM_001010867.4(IBA57):c.54C>T (p.Val18=)
NM_001010867.4(IBA57):c.567G>T (p.Pro189=) rs764091126
NM_001010867.4(IBA57):c.576A>C (p.Ala192=)
NM_001010867.4(IBA57):c.585G>A (p.Gly195=) rs2124976810
NM_001010867.4(IBA57):c.594C>T (p.Leu198=)
NM_001010867.4(IBA57):c.612C>G (p.Gly204=)
NM_001010867.4(IBA57):c.633C>T (p.Gly211=)
NM_001010867.4(IBA57):c.680-11A>G
NM_001010867.4(IBA57):c.680-16C>A
NM_001010867.4(IBA57):c.680-18C>G
NM_001010867.4(IBA57):c.680-6C>T
NM_001010867.4(IBA57):c.693G>A (p.Gly231=)
NM_001010867.4(IBA57):c.696C>A (p.Val232=)
NM_001010867.4(IBA57):c.720C>T (p.Ala240=)
NM_001010867.4(IBA57):c.739C>T (p.Leu247=)
NM_001010867.4(IBA57):c.753C>T (p.Asn251=)
NM_001010867.4(IBA57):c.768C>T (p.Thr256=) rs760717161
NM_001010867.4(IBA57):c.78C>T (p.Ala26=)
NM_001010867.4(IBA57):c.825C>T (p.Ile275=)
NM_001010867.4(IBA57):c.84G>A (p.Arg28=)
NM_001010867.4(IBA57):c.906C>G (p.Ala302=)
NM_001010867.4(IBA57):c.948C>T (p.Asn316=)
NM_001010867.4(IBA57):c.961C>T (p.Leu321=) rs376206530
NM_001010867.4(IBA57):c.987T>G (p.Gly329=)
NM_001010867.4(IBA57):c.996C>T (p.His332=)

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