ClinVar Miner

List of variants reported as pathogenic for inborn disorder of amino acid metabolism by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 116
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) rs202210819 0.00032
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_006214.4(PHYH):c.135-2A>G rs201578674 0.00017
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_000156.6(GAMT):c.133T>A (p.Trp45Arg) rs886054247 0.00006
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro) rs137852696 0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_006343.3(MERTK):c.1296+1G>A rs774577413 0.00006
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550 0.00004
NM_006269.2(RP1):c.1625C>G (p.Ser542Ter) rs779334655 0.00004
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_033100.4(CDHR1):c.295del (p.Glu99fs) rs867166472 0.00004
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273 0.00004
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter) rs370421531 0.00003
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) rs373037737 0.00003
NM_000440.3(PDE6A):c.998+1G>A rs748946491 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201548.5(CERKL):c.598A>T (p.Lys200Ter) rs398122963 0.00003
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn) rs774144200 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter) rs145961131 0.00002
NM_006269.2(RP1):c.5962dup (p.Ile1988fs) rs769512989 0.00002
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440 0.00002
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 0.00002
NM_000156.6(GAMT):c.145del (p.Tyr49fs) rs1384688313 0.00001
NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter) rs772057239 0.00001
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571 0.00001
NM_000350.3(ABCA4):c.6386+2C>G rs61753043 0.00001
NM_000539.3(RHO):c.936+1G>T rs776014770 0.00001
NM_001029883.3(PCARE):c.958del (p.Arg320fs) rs1558490060 0.00001
NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter) rs151017794 0.00001
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter) rs1177052380 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter) rs119489105 0.00001
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter) rs1160669210 0.00001
NM_201548.5(CERKL):c.780del (p.Pro261fs) rs398122964 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1
GRCh38/hg38 16q23.1(chr16:78099236-78100272)x0
GRCh38/hg38 17p13.1(chr17:6690682-6696039)x0
GRCh38/hg38 19q13.42(chr19:54105500-54126715)x1
GRCh38/hg38 19q13.42(chr19:54106667-54131817)x1
GRCh38/hg38 19q13.42(chr19:54114345-54129468)x1
GRCh38/hg38 19q13.42(chr19:54121739-54129468)x1
GRCh38/hg38 19q13.42(chr19:54121739-54131817)x1
GRCh38/hg38 1q31.3(chr1:197435257-197441674)x0
GRCh38/hg38 2q13(chr2:111940205-112029659)x0
GRCh38/hg38 2q13(chr2:111940205-112055854)x1
GRCh38/hg38 2q13(chr2:111993999-111994721)x1
GRCh38/hg38 4q22.1(chr4:92303869-92304842)x0
GRCh38/hg38 6q12(chr6:64902016-64946012)x1
GRCh38/hg38 6q12(chr6:64997485-65057825)x0
GRCh38/hg38 Xp11.4(chrX:38269073-38287133)x0
GRCh38/hg38 Xp11.4(chrX:38297187-38299239)x0
GRCh38/hg38 Xp11.4(chrX:38301150-38301469)x0
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter) rs556829801
NM_000156.6(GAMT):c.491del (p.Gly164fs) rs749390953
NM_000156.6(GAMT):c.491dup (p.Val165fs) rs749390953
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup) rs779931959
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter) rs200444143
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter) rs145605739
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000350.3(ABCA4):c.4539+1G>T rs61751388
NM_000350.3(ABCA4):c.5898+1G>A rs61750638
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) rs63749055
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter) rs1397537890
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs) rs2067187618
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.7056-2A>C rs1772621012
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001242957.3:c.1297_1298insAlu
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met) rs104893680
NM_001378454.1(ALMS1):c.10771del (p.Thr3591fs) rs2104105073
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_003322.6(TULP1):c.487C>T (p.Gln163Ter) rs2150927932
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004523.4(KIF11):c.2932_2933dup (p.Val978_Glu979insTer) rs2135925949
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006269.2(RP1):c.688G>T (p.Gly230Ter) rs1585559122
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter) rs201008667
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.