ClinVar Miner

List of variants reported as uncertain significance for amino acid metabolism disease by New York Genome Center

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser) rs114755364 0.00326
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala) rs61747068 0.00152
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His) rs147330179 0.00104
NM_004279.3(PMPCB):c.1462C>T (p.Arg488Cys) rs151236121 0.00101
NM_177972.3(TUB):c.1388-10T>G rs150402974 0.00097
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) rs141098495 0.00048
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys) rs147744868 0.00046
NM_177972.3(TUB):c.358G>A (p.Gly120Ser) rs146650842 0.00043
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00038
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_001003841.3(SLC6A19):c.1606G>A (p.Val536Met) rs145250153 0.00032
NM_015662.3(IFT172):c.1523G>A (p.Arg508His) rs144868723 0.00030
NM_000156.6(GAMT):c.570+4C>T rs199967562 0.00026
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile) rs373076763 0.00021
NM_177972.3(TUB):c.364G>A (p.Ala122Thr) rs201324153 0.00021
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp) rs142667203 0.00018
NM_004279.3(PMPCB):c.661A>G (p.Ile221Val) rs149104855 0.00014
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His) rs752396911 0.00006
NM_015662.3(IFT172):c.442A>G (p.Ile148Val) rs759861487 0.00006
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser) rs181107019 0.00006
NM_177972.3(TUB):c.451G>A (p.Val151Met) rs767402711 0.00006
NM_177972.3(TUB):c.164G>A (p.Arg55Gln) rs371844684 0.00005
NM_000026.4(ADSL):c.1355G>A (p.Arg452His) rs775671027 0.00004
NM_000170.3(GLDC):c.2362C>G (p.Leu788Val) rs139300551 0.00004
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met) rs768219929 0.00004
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr) rs1406066197 0.00004
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln) rs745775887 0.00004
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met) rs111344269 0.00004
NM_004172.5(SLC1A3):c.329C>T (p.Ala110Val) rs745820508 0.00004
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys) rs782155408 0.00004
NM_177972.3(TUB):c.1498G>A (p.Asp500Asn) rs368907491 0.00004
NM_000836.4(GRIN2D):c.3253G>A (p.Ala1085Thr) rs1971327716 0.00003
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg) rs1264567694 0.00003
NM_005763.4(AASS):c.1393C>G (p.Leu465Val) rs1011506361 0.00003
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr) rs200699154 0.00003
NM_000276.4(OCRL):c.2066G>A (p.Arg689His) rs748186190 0.00002
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val) rs952757731 0.00002
NM_004974.4(KCNA2):c.1375A>G (p.Met459Val) rs371146552 0.00002
NM_005957.5(MTHFR):c.1760C>G (p.Ala587Gly) rs761226286 0.00002
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr) rs770733075 0.00002
NM_177972.3(TUB):c.1159G>A (p.Val387Met) rs1214536528 0.00002
NM_177972.3(TUB):c.1210C>T (p.Arg404Cys) rs139170512 0.00002
NM_000836.4(GRIN2D):c.1558G>A (p.Val520Ile) rs761726968 0.00001
NM_000836.4(GRIN2D):c.3250G>A (p.Gly1084Ser) rs1340140743 0.00001
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile) rs756562814 0.00001
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys) rs2057741441 0.00001
NM_001258392.3(CLPB):c.1308C>G (p.Ile436Met) rs140355579 0.00001
NM_001958.5(EEF1A2):c.653G>A (p.Arg218His) rs1459691759 0.00001
NM_001958.5(EEF1A2):c.667G>A (p.Ala223Thr) rs778585590 0.00001
NM_003042.4(SLC6A1):c.582-3C>T rs368174761 0.00001
NM_004171.4(SLC1A2):c.877G>A (p.Ala293Thr) rs956332291 0.00001
NM_004172.5(SLC1A3):c.476G>A (p.Gly159Asp) rs1167788931 0.00001
NM_004408.4(DNM1):c.1558-3C>T rs546517702 0.00001
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr) rs1447311755 0.00001
NM_005334.3(HCFC1):c.503+6G>A rs1048267564 0.00001
NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys) rs148307049 0.00001
NM_015662.3(IFT172):c.3932C>T (p.Ala1311Val) rs760562906 0.00001
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln) rs201840472 0.00001
NC_000015.10:g.51681311_51791472dup
NC_000016.10:g.77893032_78561479dup
NC_000020.11:g.49212886_49410642dup
NM_000026.4(ADSL):c.1102-6C>G rs758666194
NM_000071.3(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000170.3(GLDC):c.861+5G>A rs192663616
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser) rs1664588529
NM_000836.4(GRIN2D):c.3022T>C (p.Phe1008Leu) rs2147476513
NM_001003841.3(SLC6A19):c.1019A>T (p.Asn340Ile) rs1373139216
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val) rs1835097031
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser) rs569527072
NM_001127222.2(CACNA1A):c.1199-7T>A rs2145126181
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg) rs751726770
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp) rs747413278
NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)
NM_001127222.2(CACNA1A):c.3090-5C>T rs976595665
NM_001127222.2(CACNA1A):c.3145C>A (p.Pro1049Thr) rs2057414205
NM_001127222.2(CACNA1A):c.3643A>G (p.Lys1215Glu) rs1476884019
NM_001127222.2(CACNA1A):c.3822+70A>G rs1462524553
NM_001127222.2(CACNA1A):c.6506G>T (p.Arg2169Leu) rs1417890059
NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg) rs2144488387
NM_001271.4(CHD2):c.2189+8C>T rs1486555733
NM_001271.4(CHD2):c.5126A>T (p.His1709Leu) rs1172858416
NM_001278293.3(ARL6):c.254+1371G>A
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met) rs2138748384
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val) rs2138868846
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln) rs1555226186
NM_001330260.2(SCN8A):c.3820-1G>T rs1373881732
NM_001482.3(GATM):c.297A>G (p.Thr99=) rs1445305823
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile) rs150463750
NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu) rs751318676
NM_002860.4(ALDH18A1):c.89-1G>C rs2139642879
NM_003042.4(SLC6A1):c.1477T>C (p.Cys493Arg) rs2124942534
NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu) rs1334690406
NM_003124.5(SPR):c.10G>A (p.Gly4Arg) rs2105239914
NM_004113.6(FGF12):c.125-3181A>G rs1577367655
NM_004113.6(FGF12):c.14-47649A>G rs2108776132
NM_004113.6(FGF12):c.145G>C (p.Val49Leu) rs199832838
NM_004113.6(FGF12):c.491G>A (p.Ser164Asn) rs2108576388
NM_004408.4(DNM1):c.2535-613C>T rs1385389663
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs)
NM_005271.5(GLUD1):c.1402A>C (p.Met468Leu) rs2133792192
NM_005271.5(GLUD1):c.240C>G (p.Ile80Met) rs2133874774
NM_005271.5(GLUD1):c.446-5634T>C rs1841280208
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp) rs2065362050
NM_012213.3(MLYCD):c.1077A>C (p.Glu359Asp) rs2151060004
NM_012213.3(MLYCD):c.[*130G>T;*220A>G*286G>T*504C>A*82C>G]
NM_014714.4(IFT140):c.3176C>T (p.Ala1059Val) rs779603114
NM_015662.3(IFT172):c.1720G>C (p.Gly574Arg)
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His) rs746597294
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys) rs199511589
NM_018233.4(OGFOD1):c.1467+11_1467+13del
NM_021072.4(HCN1):c.1377+19834C>T rs761223261
NM_021072.4(HCN1):c.2165C>T (p.Pro722Leu) rs2111839334
NM_021072.4(HCN1):c.849+66420G>T rs986310668
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) rs1597020018
NM_177550.5(SLC13A5):c.289G>A (p.Ala97Thr) rs1597676768
NM_177972.3(TUB):c.115AAG[2] (p.Lys41del) rs749961508
NM_177972.3(TUB):c.1425G>C (p.Glu475Asp)
NM_177972.3(TUB):c.293C>T (p.Ala98Val) rs909748733
NM_177972.3(TUB):c.722A>G (p.Glu241Gly)
NM_177972.3(TUB):c.728C>T (p.Pro243Leu) rs1944038804
NM_177972.3(TUB):c.885+7T>C rs776753352

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