ClinVar Miner

List of variants reported as uncertain significance for amino acid metabolism disease by Mendelics

Included ClinVar conditions (436):
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ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356 0.02010
NM_000666.3(ACY1):c.1156C>T (p.Arg386Cys) rs2229152 0.00516
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406 0.00223
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210 0.00223
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_002150.3(HPD):c.1005C>G (p.Ile335Met) rs137852868 0.00051
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190 0.00049
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557 0.00049
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) rs541276426 0.00041
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln) rs192912733 0.00034
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu) rs200507858 0.00022
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe) rs141131444 0.00012
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318 0.00007
NM_001012720.2(RGR):c.700G>A (p.Ala234Thr) rs377043137 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_001958.5(EEF1A2):c.716C>T (p.Thr239Met) rs993963334 0.00003
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg) rs1264567694 0.00003
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met) rs779953123 0.00002
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) rs1202091819 0.00002
NM_000137.4(FAH):c.1213T>C (p.Phe405Leu) rs1341466471 0.00001
NM_000137.4(FAH):c.1214T>A (p.Phe405Tyr) rs1595899559 0.00001
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala) rs1554648117 0.00001
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu) rs1570650181 0.00001
NM_000531.6(OTC):c.493G>C (p.Asp165His) rs72556275 0.00001
NM_003038.5(SLC1A4):c.272T>C (p.Leu91Pro) rs1037527372 0.00001
NM_033100.4(CDHR1):c.862+4A>C rs1352559639 0.00001
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr) rs914935376 0.00001
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala) rs2309689
NM_000018.4(ACADVL):c.865G>C (p.Gly289Arg) rs200788251
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu) rs886039146
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu) rs1581831934
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp) rs1581829908
NM_000531.6(OTC):c.974C>T (p.Pro325Leu) rs1602034625
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000836.4(GRIN2D):c.1605G>T (p.Met535Ile) rs1390364278
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser) rs1131692025
NM_004408.4(DNM1):c.985C>G (p.Leu329Val) rs868772525
NM_004698.4(PRPF3):c.-48-2A>T rs782747350
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=) rs1603216989
NM_006915.3(RP2):c.884-14G>A rs1602354996
NM_012469.4(PRPF6):c.2593C>T (p.His865Tyr) rs1037019727
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854
NM_021800.3(DNAJC12):c.124C>T (p.His42Tyr) rs1055578473
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835
NM_033100.4(CDHR1):c.2197G>T (p.Val733Phe) rs1589309412
NM_033100.4(CDHR1):c.348+5G>T rs1412093692
NM_177550.5(SLC13A5):c.272T>C (p.Leu91Pro) rs1555543400
NM_177965.4(CFAP418):c.94G>A (p.Gly32Ser) rs779716988

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