ClinVar Miner

List of variants reported as likely benign for Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

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ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_014252.3(SLC25A15):c.-259G>C rs191621874 0.03242
NM_014252.4(SLC25A15):c.623-17A>G rs191780003 0.00905
NM_014252.4(SLC25A15):c.-67A>T rs112276566 0.00623
NM_014252.4(SLC25A15):c.*58G>T rs17090557 0.00553
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) rs34615430 0.00292
NM_014252.4(SLC25A15):c.*606C>G rs555003166 0.00174
NM_014252.4(SLC25A15):c.564C>T (p.Phe188=) rs141028076 0.00077
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=) rs35434090 0.00029
NM_014252.4(SLC25A15):c.789G>A (p.Thr263=) rs144478411 0.00015
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) rs142236568 0.00012
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=) rs572717478 0.00011
NM_014252.4(SLC25A15):c.330A>G (p.Ala110=) rs754666431 0.00011
NM_014252.4(SLC25A15):c.513T>C (p.His171=) rs200321784 0.00011
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln) rs369201060 0.00010
NM_014252.4(SLC25A15):c.861C>T (p.Tyr287=) rs148422923 0.00010
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu) rs187685447 0.00009
NM_014252.4(SLC25A15):c.378C>T (p.Pro126=) rs1331945995 0.00009
NM_014252.4(SLC25A15):c.55+17C>G rs552201985 0.00009
NM_014252.4(SLC25A15):c.729T>G (p.Ser243=) rs1007126000 0.00009
NM_014252.4(SLC25A15):c.324G>A (p.Gln108=) rs756644906 0.00006
NM_014252.4(SLC25A15):c.381G>A (p.Thr127=) rs543205273 0.00005
NM_014252.4(SLC25A15):c.388G>A (p.Val130Met) rs553432772 0.00005
NM_014252.4(SLC25A15):c.417G>A (p.Glu139=) rs752316567 0.00005
NM_014252.4(SLC25A15):c.788C>T (p.Thr263Met) rs140242288 0.00005
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=) rs536354947 0.00004
NM_014252.4(SLC25A15):c.576A>G (p.Glu192=) rs774514708 0.00004
NM_014252.4(SLC25A15):c.782-18C>T rs183166413 0.00004
NM_014252.4(SLC25A15):c.453-8C>T rs368094314 0.00003
NM_014252.4(SLC25A15):c.144C>T (p.Thr48=) rs376634191 0.00002
NM_014252.4(SLC25A15):c.314+10G>A rs538900917 0.00002
NM_014252.4(SLC25A15):c.336C>T (p.Ala112=) rs371187770 0.00002
NM_014252.4(SLC25A15):c.567T>C (p.Gly189=) rs1266409173 0.00002
NM_014252.4(SLC25A15):c.756C>T (p.Thr252=) rs11618618 0.00002
NM_014252.4(SLC25A15):c.177C>A (p.Gly59=) rs1057519112 0.00001
NM_014252.4(SLC25A15):c.18T>C (p.Ala6=) rs573033866 0.00001
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=) rs765380976 0.00001
NM_014252.4(SLC25A15):c.282A>G (p.Lys94=) rs761843636 0.00001
NM_014252.4(SLC25A15):c.372C>G (p.Leu124=) rs1305315510 0.00001
NM_014252.4(SLC25A15):c.400C>T (p.Leu134=) rs1882124544 0.00001
NM_014252.4(SLC25A15):c.402G>A (p.Leu134=) rs1593294212 0.00001
NM_014252.4(SLC25A15):c.452+11C>G rs780976780 0.00001
NM_014252.4(SLC25A15):c.453-10C>G rs745823100 0.00001
NM_014252.4(SLC25A15):c.453-5C>T rs748169316 0.00001
NM_014252.4(SLC25A15):c.55+8C>A rs1280804783 0.00001
NM_014252.4(SLC25A15):c.555C>T (p.Phe185=) rs1489139087 0.00001
NM_014252.4(SLC25A15):c.744A>G (p.Gly248=) rs1372683295 0.00001
NM_014252.4(SLC25A15):c.782-17G>A rs375356896 0.00001
NM_014252.4(SLC25A15):c.78C>T (p.Thr26=) rs1450925149 0.00001
NM_014252.4(SLC25A15):c.805C>T (p.Leu269=) rs1397426904 0.00001
NM_014252.4(SLC25A15):c.81G>A (p.Gly27=) rs1395458736 0.00001
NM_014252.4(SLC25A15):c.846A>G (p.Ala282=) rs751245001 0.00001
NM_014252.4(SLC25A15):c.864A>G (p.Glu288=) rs756808391 0.00001
NM_014252.4(SLC25A15):c.873G>A (p.Arg291=) rs769268831 0.00001
NM_014252.4(SLC25A15):c.*1829AAAAG[2] rs201178711
NM_014252.4(SLC25A15):c.*2438G>A rs181523869
NM_014252.4(SLC25A15):c.105G>T (p.Val35=) rs1206882399
NM_014252.4(SLC25A15):c.120C>T (p.Phe40=)
NM_014252.4(SLC25A15):c.123T>C (p.Pro41=)
NM_014252.4(SLC25A15):c.129G>A (p.Leu43=) rs1881776190
NM_014252.4(SLC25A15):c.132C>T (p.Tyr44=) rs2138045756
NM_014252.4(SLC25A15):c.135G>A (p.Arg45=) rs2138045768
NM_014252.4(SLC25A15):c.138C>A (p.Gly46=) rs560300254
NM_014252.4(SLC25A15):c.138C>T (p.Gly46=) rs560300254
NM_014252.4(SLC25A15):c.154C>T (p.Leu52=)
NM_014252.4(SLC25A15):c.156G>A (p.Leu52=)
NM_014252.4(SLC25A15):c.192C>T (p.Tyr64=) rs1008259618
NM_014252.4(SLC25A15):c.201C>A (p.Thr67=)
NM_014252.4(SLC25A15):c.207A>G (p.Pro69=)
NM_014252.4(SLC25A15):c.213A>G (p.Leu71=)
NM_014252.4(SLC25A15):c.216C>A (p.Ile72=) rs572717478
NM_014252.4(SLC25A15):c.21C>T (p.Ile7=) rs1360586910
NM_014252.4(SLC25A15):c.225C>A (p.Ile75=)
NM_014252.4(SLC25A15):c.228T>C (p.Ala76=) rs1881786415
NM_014252.4(SLC25A15):c.231G>A (p.Glu77=)
NM_014252.4(SLC25A15):c.237A>C (p.Ser79=)
NM_014252.4(SLC25A15):c.237A>G (p.Ser79=) rs2138045991
NM_014252.4(SLC25A15):c.243C>T (p.Leu81=) rs1355172390
NM_014252.4(SLC25A15):c.246C>T (p.Phe82=) rs2138046007
NM_014252.4(SLC25A15):c.258C>T (p.Gly86=)
NM_014252.4(SLC25A15):c.264C>T (p.Cys88=) rs2138046037
NM_014252.4(SLC25A15):c.292T>C (p.Leu98=)
NM_014252.4(SLC25A15):c.294G>A (p.Leu98=)
NM_014252.4(SLC25A15):c.300G>A (p.Lys100=)
NM_014252.4(SLC25A15):c.303G>A (p.Gln101=)
NM_014252.4(SLC25A15):c.309_310delinsAT (p.Lys103_Leu104=) rs2138046122
NM_014252.4(SLC25A15):c.310C>T (p.Leu104=)
NM_014252.4(SLC25A15):c.314+12AC[3]
NM_014252.4(SLC25A15):c.314+17C>A rs1333416722
NM_014252.4(SLC25A15):c.314+18A>G
NM_014252.4(SLC25A15):c.314+19C>T
NM_014252.4(SLC25A15):c.314+19_314+20del
NM_014252.4(SLC25A15):c.314+24_314+26del rs754389895
NM_014252.4(SLC25A15):c.315-12G>A
NM_014252.4(SLC25A15):c.315-12G>C
NM_014252.4(SLC25A15):c.315-12G>T
NM_014252.4(SLC25A15):c.315-14T>G
NM_014252.4(SLC25A15):c.315-17dup
NM_014252.4(SLC25A15):c.315-20G>C
NM_014252.4(SLC25A15):c.315-7C>T rs2138053984
NM_014252.4(SLC25A15):c.315-8G>A
NM_014252.4(SLC25A15):c.321G>A (p.Leu107=) rs750924937
NM_014252.4(SLC25A15):c.321G>T (p.Leu107=)
NM_014252.4(SLC25A15):c.339T>A (p.Gly113=)
NM_014252.4(SLC25A15):c.354C>A (p.Ala118=)
NM_014252.4(SLC25A15):c.354C>T (p.Ala118=) rs775654159
NM_014252.4(SLC25A15):c.363A>C (p.Ala121=)
NM_014252.4(SLC25A15):c.363A>G (p.Ala121=) rs1882121523
NM_014252.4(SLC25A15):c.364C>T (p.Leu122=)
NM_014252.4(SLC25A15):c.372C>T (p.Leu124=) rs1305315510
NM_014252.4(SLC25A15):c.387C>G (p.Leu129=)
NM_014252.4(SLC25A15):c.387C>T (p.Leu129=) rs151093794
NM_014252.4(SLC25A15):c.393G>A (p.Lys131=)
NM_014252.4(SLC25A15):c.423G>A (p.Glu141=)
NM_014252.4(SLC25A15):c.42A>C (p.Thr14=)
NM_014252.4(SLC25A15):c.452+19C>T
NM_014252.4(SLC25A15):c.452+7A>G rs2138054291
NM_014252.4(SLC25A15):c.452+9C>T
NM_014252.4(SLC25A15):c.453-12_453-11del
NM_014252.4(SLC25A15):c.453-14G>C
NM_014252.4(SLC25A15):c.453-16C>T
NM_014252.4(SLC25A15):c.453-19T>C
NM_014252.4(SLC25A15):c.453-7C>T rs2138056608
NM_014252.4(SLC25A15):c.45G>A (p.Ala15=) rs200958757
NM_014252.4(SLC25A15):c.489A>G (p.Lys163=)
NM_014252.4(SLC25A15):c.495C>A (p.Gly165=) rs2138056684
NM_014252.4(SLC25A15):c.504G>T (p.Gly168=) rs770229041
NM_014252.4(SLC25A15):c.507C>T (p.Phe169=)
NM_014252.4(SLC25A15):c.519C>T (p.Leu173=)
NM_014252.4(SLC25A15):c.55+11G>C
NM_014252.4(SLC25A15):c.55+15C>T
NM_014252.4(SLC25A15):c.55+17C>T
NM_014252.4(SLC25A15):c.55+18A>C
NM_014252.4(SLC25A15):c.55+6_55+9dup rs2138039659
NM_014252.4(SLC25A15):c.55+8C>T rs1280804783
NM_014252.4(SLC25A15):c.558C>T (p.Phe186=)
NM_014252.4(SLC25A15):c.56-13G>T
NM_014252.4(SLC25A15):c.56-16T>C
NM_014252.4(SLC25A15):c.56-17A>G
NM_014252.4(SLC25A15):c.56-6T>C
NM_014252.4(SLC25A15):c.56-8G>A rs2138045584
NM_014252.4(SLC25A15):c.56-9T>C
NM_014252.4(SLC25A15):c.579G>C (p.Leu193=) rs2138056841
NM_014252.4(SLC25A15):c.585G>A (p.Arg195=)
NM_014252.4(SLC25A15):c.588C>T (p.Ser196=) rs2138056870
NM_014252.4(SLC25A15):c.597A>G (p.Ala199=) rs1001813690
NM_014252.4(SLC25A15):c.622+20C>T
NM_014252.4(SLC25A15):c.622+24_622+25insCATTTGCATTGACAGCA
NM_014252.4(SLC25A15):c.622+9G>A rs2138056932
NM_014252.4(SLC25A15):c.623-13T>C
NM_014252.4(SLC25A15):c.623-16T>C
NM_014252.4(SLC25A15):c.623-17A>T rs191780003
NM_014252.4(SLC25A15):c.623-18_623-17insG rs1212518673
NM_014252.4(SLC25A15):c.623-5T>C
NM_014252.4(SLC25A15):c.623-5del
NM_014252.4(SLC25A15):c.623-9T>C
NM_014252.4(SLC25A15):c.624C>A (p.Gly208=)
NM_014252.4(SLC25A15):c.624C>T (p.Gly208=)
NM_014252.4(SLC25A15):c.627T>C (p.Pro209=) rs1882286895
NM_014252.4(SLC25A15):c.633T>G (p.Pro211=)
NM_014252.4(SLC25A15):c.657T>A (p.Gly219=)
NM_014252.4(SLC25A15):c.678G>C (p.Ala226=) rs183697658
NM_014252.4(SLC25A15):c.681A>G (p.Val227=) rs767671614
NM_014252.4(SLC25A15):c.693T>C (p.Asp231=)
NM_014252.4(SLC25A15):c.699C>T (p.Ile233=)
NM_014252.4(SLC25A15):c.69T>C (p.Cys23=) rs2138045632
NM_014252.4(SLC25A15):c.714A>G (p.Gln238=)
NM_014252.4(SLC25A15):c.723C>T (p.Ser241=)
NM_014252.4(SLC25A15):c.72A>T (p.Val24=) rs1392943139
NM_014252.4(SLC25A15):c.73C>T (p.Leu25=)
NM_014252.4(SLC25A15):c.75G>C (p.Leu25=) rs2138045646
NM_014252.4(SLC25A15):c.760A>C (p.Ile254Leu) rs17849654
NM_014252.4(SLC25A15):c.781+12C>T
NM_014252.4(SLC25A15):c.781+15G>A
NM_014252.4(SLC25A15):c.781+9dup rs2138058178
NM_014252.4(SLC25A15):c.782-10T>G rs2138059526
NM_014252.4(SLC25A15):c.782-18C>G
NM_014252.4(SLC25A15):c.782-19C>T
NM_014252.4(SLC25A15):c.782-20A>G
NM_014252.4(SLC25A15):c.782-6del
NM_014252.4(SLC25A15):c.789G>T (p.Thr263=) rs144478411
NM_014252.4(SLC25A15):c.792C>G (p.Ala264=) rs768406331
NM_014252.4(SLC25A15):c.804A>G (p.Gly268=) rs2138059571
NM_014252.4(SLC25A15):c.831C>T (p.Phe277=) rs2138059638
NM_014252.4(SLC25A15):c.843A>T (p.Gly281=) rs199850093
NM_014252.4(SLC25A15):c.855G>A (p.Leu285=)
NM_014252.4(SLC25A15):c.888C>T (p.Asn296=) rs2138059719
NM_014252.4(SLC25A15):c.891G>A (p.Gln297=)
NM_014252.4(SLC25A15):c.900A>T (p.Ala300=)
NM_014252.4(SLC25A15):c.905G>A (p.Ter302=) rs2138059746
NM_014252.4(SLC25A15):c.93C>T (p.Asp31=)

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