ClinVar Miner

List of variants reported as likely pathogenic for amino acid metabolism disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (436):
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ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_178857.6(RP1L1):c.4004_4005insT (p.Val1336fs) rs781490139 0.00036
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382 0.00022
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000372.5(TYR):c.325G>A (p.Gly109Arg) rs61753253 0.00009
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_006623.4(PHGDH):c.374C>T (p.Thr125Met) rs764618040 0.00002
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His) rs752669339 0.00001
NM_054012.4(ASS1):c.174+1G>T rs748264993 0.00001
NM_144596.4(TTC8):c.915del (p.Met305fs) rs1431207606 0.00001
NM_000019.4(ACAT1):c.826+2T>G rs2077590197
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000170.3(GLDC):c.176G>C (p.Arg59Thr) rs386833530
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs) rs1817555980
NM_000274.4(OAT):c.875A>G (p.Lys292Arg) rs1057518927
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000709.4(BCKDHA):c.1168-1G>A rs2039405116
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) rs1057518949
NM_001034853.2(RPGR):c.3457T>A (p.Ter1153Lys) rs2067111489
NM_001201543.2(FAM161A):c.294del (p.Lys98_Val99insTer) rs762087385
NM_001330260.2(SCN8A):c.2617G>T (p.Gly873Cys) rs1942828530
NM_006269.2(RP1):c.4908C>A (p.Tyr1636Ter) rs200942439
NM_006623.4(PHGDH):c.290+2T>C rs886041874
NM_006859.4(LIAS):c.643del (p.Asp215fs) rs1744806313
NM_006915.3(RP2):c.409_411del (p.Ile137del) rs1924904597
NM_014270.5(SLC7A9):c.450_452del (p.Val151del) rs1294838201
NM_015629.4(PRPF31):c.757G>A (p.Gly253Arg) rs2073873973
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_016373.4(WWOX):c.918del (p.Glu306fs) rs1057518795
NM_144631.6(ZNF513):c.279_283del (p.Ala94fs) rs1683490120
NM_152419.3(HGSNAT):c.272del (p.Pro91fs) rs1803166641
NM_201548.5(CERKL):c.677+3A>G rs1553515435

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