ClinVar Miner

List of variants reported as benign for congenital disorder of glycosylation type I

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 511
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000011.9:g.111742146del rs10708475 1.00000
NM_024079.5(ALG8):c.478+35A>T rs518624 0.99999
NM_019109.5(ALG1):c.741-111T>C rs2110339 0.96843
NM_138459.5(NUS1):c.-16T>C rs9767451 0.94753
NM_019109.5(ALG1):c.391-24C>T rs4786590 0.94238
NM_019109.5(ALG1):c.630-55G>A rs7194217 0.94198
NM_019109.5(ALG1):c.540-111T>A rs11076869 0.94065
NM_024079.4(ALG8):c.*20A>G rs1263505 0.86211
NM_003863.4(DPM2):c.213T>C (p.Tyr71=) rs6781 0.80380
NM_003863.3(DPM2):c.-152A>G rs6478802 0.79362
NM_003863.3(DPM2):c.-628A>G rs3758327 0.79360
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser) rs7997 0.79357
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_024592.5(SRD5A3):c.*2589G>A rs819271 0.71550
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_004870.4(MPDU1):c.*308G>T rs4227 0.67099
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_052859.4(RFT1):c.*2887G>A rs2099162 0.65392
NM_024592.5(SRD5A3):c.*1069G>A rs501679 0.65365
NM_052859.4(RFT1):c.*450C>T rs2564922 0.63746
NM_024740.2(ALG9):c.1602+10449A>G rs610437 0.63674
NM_005216.5(DDOST):c.315C>T (p.Gly105=) rs4704 0.63408
NM_021645.6(UTP14C):c.254G>T (p.Gly85Val) rs3742289 0.63014
NM_024079.5(ALG8):c.898+139C>T rs624350 0.62975
NM_013339.4(ALG6):c.*761T>C rs3009572 0.60547
NM_013339.4(ALG6):c.494+74A>G rs6588028 0.59605
NM_021645.6(UTP14C):c.835C>T (p.Leu279=) rs3742291 0.56764
NM_019109.5(ALG1):c.1188-77G>T rs8056523 0.53440
NM_052859.4(RFT1):c.1103-24T>C rs2581829 0.50896
NM_019109.5(ALG1):c.863-70C>T rs1846689 0.50015
NM_019109.5(ALG1):c.863-84G>A rs1846690 0.50001
NM_019109.5(ALG1):c.1149C>T (p.Phe383=) rs1047732 0.48295
NM_052859.4(RFT1):c.*334A>G rs2564921 0.47829
NM_052859.4(RFT1):c.1623A>G (p.Thr541=) rs11242 0.47740
NM_052859.4(RFT1):c.*2646T>C rs891368 0.47736
NM_052859.4(RFT1):c.*2433C>T rs1078968 0.47710
NM_052859.4(RFT1):c.*2950C>T rs2082093 0.47683
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741 0.45813
NM_002633.3(PGM1):c.683-22A>T rs6588052 0.45082
NM_004341.5(CAD):c.4773A>G (p.Ala1591=) rs1141313 0.44315
NM_000303.3(PMM2):c.*252C>A rs2075828 0.41543
NM_021645.6(UTP14C):c.-22A>C rs3825528 0.40130
NM_152713.5(STT3A):c.996G>A (p.Ser332=) rs2241502 0.39463
NM_152713.5(STT3A):c.961+25C>T rs6590153 0.39437
NM_005216.5(DDOST):c.646-16C>T rs607254 0.38527
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val) rs643788 0.38193
NM_001382.4(DPAGT1):c.*184G>A rs8551 0.37865
NM_024079.5(ALG8):c.95+23G>T rs10793289 0.37596
NM_024105.4(ALG12):c.885A>G (p.Ala295=) rs8135963 0.36465
NM_002435.3(MPI):c.345+15G>A rs11638130 0.35866
NM_013339.4(ALG6):c.347-107A>G rs1012872 0.35371
NM_024592.5(SRD5A3):c.*321C>T rs13149568 0.35130
NM_001382.4(DPAGT1):c.*417T>C rs7759 0.29923
NM_002633.3(PGM1):c.1600-23G>T rs11208265 0.29721
NM_024740.2(ALG9):c.865G>A (p.Val289Ile) rs10502151 0.28588
NM_000303.3(PMM2):c.*997A>G rs1056898 0.28325
NM_024592.5(SRD5A3):c.*2005T>C rs819269 0.27879
NM_024592.5(SRD5A3):c.*70C>T rs2538 0.27858
NM_024592.5(SRD5A3):c.*546G>A rs573960 0.27847
NM_024592.5(SRD5A3):c.*2368G>A rs819270 0.27839
NM_024592.5(SRD5A3):c.*879C>T rs576732 0.27835
NM_152713.5(STT3A):c.1117+12C>T rs2241501 0.27654
NM_000303.3(PMM2):c.*175G>A rs2072688 0.26303
NM_001099922.3(ALG13):c.1435+5A>T rs5985638 0.26139
NM_002633.3(PGM1):c.1464+14G>T rs2269238 0.25474
NM_024105.4(ALG12):c.*51A>G rs1321 0.25423
NM_000303.3(PMM2):c.*136A>C rs2075827 0.24978
NM_024105.4(ALG12):c.664+9G>C rs9616368 0.23841
NM_024105.4(ALG12):c.664+12A>G rs9616204 0.23839
NM_005787.6(ALG3):c.*50T>G rs706584 0.23812
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.22903
NM_024105.4(ALG12):c.-141T>C rs9616378 0.22442
NM_052859.4(RFT1):c.*490T>A rs62255926 0.21145
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His) rs11208257 0.21027
NM_013339.4(ALG6):c.-136C>G rs34542411 0.20075
NM_005216.5(DDOST):c.456+18C>T rs3738140 0.19425
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278 0.17617
NM_013339.4(ALG6):c.430-133T>C rs12755065 0.17545
NM_002633.3(PGM1):c.*22C>T rs8294 0.17190
NM_000303.3(PMM2):c.66+209C>T rs9939787 0.17150
NM_002633.3(PGM1):c.262A>G (p.Ile88Val) rs855314 0.16859
NM_052859.4(RFT1):c.*2840T>A rs9875573 0.16647
NM_013339.4(ALG6):c.1058+111T>G rs4550089 0.16438
NM_052859.4(RFT1):c.*622C>G rs7645611 0.15942
NM_000303.3(PMM2):c.639+62C>T rs3743807 0.15368
NM_004870.4(MPDU1):c.685G>A (p.Ala229Thr) rs10852891 0.14975
NM_000303.3(PMM2):c.*96G>C rs11554040 0.14272
NM_019109.5(ALG1):c.1287T>A (p.Asp429Glu) rs9745522 0.11789
NM_003859.3(DPM1):c.679-7A>T rs60224379 0.11090
NM_001099922.3(ALG13):c.1293A>G (p.Pro431=) rs7063657 0.10892
NM_021645.6(UTP14C):c.301A>G (p.Thr101Ala) rs3742290 0.10387
NM_024105.4(ALG12):c.1177A>G (p.Ile393Val) rs3922872 0.09076
NM_024105.4(ALG12):c.163-19C>A rs11705497 0.07946
NM_002435.3(MPI):c.1053+31G>A rs12593975 0.07316
NM_019109.5(ALG1):c.723C>T (p.His241=) rs7195893 0.07135
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_002435.3(MPI):c.*58C>T rs2230479 0.06346
NM_052859.4(RFT1):c.267-20A>T rs73840213 0.05900
NM_033087.4(ALG2):c.31T>C (p.Ser11Pro) rs11545137 0.05446
NM_033087.4(ALG2):c.1100T>C (p.Val367Ala) rs35626507 0.05444
NM_178862.3(STT3B):c.778-17C>A rs11705765 0.05239
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290 0.04986
NM_052859.4(RFT1):c.553G>A (p.Ala185Thr) rs35221142 0.04860
NM_019109.5(ALG1):c.840G>C (p.Leu280=) rs12921879 0.04852
NM_024079.5(ALG8):c.862T>C (p.Leu288=) rs61995924 0.04685
NM_000303.3(PMM2):c.*1259C>G rs78698557 0.04619
NM_000303.3(PMM2):c.*560A>G rs2447928 0.04419
NM_024105.4(ALG12):c.99G>A (p.Val33=) rs76707654 0.04368
NM_013339.4(ALG6):c.981T>C (p.Phe327=) rs75451833 0.04164
NM_005787.6(ALG3):c.591T>C (p.Gly197=) rs2233464 0.04116
NM_002633.3(PGM1):c.1145-7C>G rs72922609 0.04055
NM_013339.4(ALG6):c.*1322A>G rs75309742 0.04045
NM_052859.4(RFT1):c.*146C>T rs72965388 0.03697
NM_052859.4(RFT1):c.*1803T>A rs114029473 0.03680
NM_052859.4(RFT1):c.*1804C>T rs114515847 0.03678
NM_024592.5(SRD5A3):c.*2063G>A rs73236134 0.03578
NM_024592.5(SRD5A3):c.*1706G>A rs147485112 0.03469
NM_004870.4(MPDU1):c.673G>A (p.Gly225Ser) rs16956808 0.03297
NM_001004127.3(ALG11):c.933G>A (p.Pro311=) rs61958802 0.03255
NM_024105.4(ALG12):c.*240G>A rs76848348 0.03225
NM_024740.2(ALG9):c.*1848G>A rs45620134 0.03051
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_002633.3(PGM1):c.1280+7C>T rs72922610 0.02818
NM_024105.4(ALG12):c.1029G>A (p.Ala343=) rs62233155 0.02811
NM_052859.4(RFT1):c.*1975C>T rs75112182 0.02786
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727 0.02624
NM_024740.2(ALG9):c.406-7C>T rs45574638 0.02566
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_013339.4(ALG6):c.*844T>C rs2884922 0.02393
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367 0.02294
NM_005216.4(DDOST):c.22G>C (p.Gly8Arg) rs537816 0.02282
NM_005216.5(DDOST):c.831C>T (p.Ala277=) rs6692016 0.02273
NM_024105.4(ALG12):c.*280G>A rs116765369 0.02266
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668 0.02180
NM_024079.5(ALG8):c.1039-5T>C rs112211908 0.02114
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_002435.3(MPI):c.684C>T (p.Asn228=) rs139190144 0.01985
NM_014908.4(DOLK):c.-49A>G rs116439010 0.01852
NM_033087.4(ALG2):c.129C>G (p.Arg43=) rs35055733 0.01831
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_002435.3(MPI):c.*358G>A rs117375132 0.01763
NM_052859.4(RFT1):c.*1009G>A rs73840205 0.01686
NM_005216.5(DDOST):c.66G>A (p.Ala22=) rs17837938 0.01665
NM_002633.3(PGM1):c.*130C>T rs2749098 0.01573
NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser) rs17480245 0.01560
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416 0.01523
NM_002633.3(PGM1):c.1599+9C>T rs115864084 0.01520
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu) rs7023652 0.01515
NM_024592.5(SRD5A3):c.*1859C>T rs1047343 0.01513
NM_024592.5(SRD5A3):c.*1601G>A rs111238066 0.01486
NM_013339.4(ALG6):c.678G>T (p.Lys226Asn) rs35604168 0.01480
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673 0.01465
NM_024592.5(SRD5A3):c.-40G>A rs111568566 0.01461
NM_052859.4(RFT1):c.64-14C>T rs78419624 0.01456
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) rs5985637 0.01375
NM_000303.3(PMM2):c.*994A>T rs113234190 0.01373
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys) rs112668461 0.01358
NM_024105.4(ALG12):c.469+13C>T rs78916708 0.01349
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01308
NM_178862.3(STT3B):c.777+7T>G rs76400963 0.01303
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val) rs41285372 0.01295
NM_024740.2(ALG9):c.*1671T>C rs116003998 0.01295
NM_178862.3(STT3B):c.2406C>A (p.Thr802=) rs17027884 0.01283
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01232
NM_002435.3(MPI):c.345+16C>T rs143242949 0.01224
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_005787.6(ALG3):c.319A>G (p.Ile107Val) rs2233463 0.01115
NM_178862.3(STT3B):c.477A>G (p.Thr159=) rs139496568 0.01086
NM_002633.3(PGM1):c.247-5664G>A rs77043134 0.01056
NM_005216.5(DDOST):c.265+9T>A rs79243170 0.01029
NM_003863.4(DPM2):c.183G>A (p.Leu61=) rs11552794 0.01027
NM_024740.2(ALG9):c.132-17T>G rs782169051 0.00984
NM_000303.3(PMM2):c.*166C>G rs115474235 0.00982
NM_024740.2(ALG9):c.132-13T>G rs72994380 0.00979
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326 0.00950
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_003863.4(DPM2):c.177C>T (p.Leu59=) rs35334863 0.00922
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348 0.00918
NM_024105.4(ALG12):c.939C>T (p.Ile313=) rs114335781 0.00874
NM_001382.4(DPAGT1):c.918-18G>A rs145206990 0.00859
NM_002435.3(MPI):c.762C>T (p.Ile254=) rs12440159 0.00855
NM_024105.4(ALG12):c.768+17G>A rs145358718 0.00827
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00791
NM_178862.3(STT3B):c.1764C>T (p.Tyr588=) rs34176522 0.00770
NM_001099922.3(ALG13):c.2401+12C>A rs150294098 0.00767
NM_024079.5(ALG8):c.175-18C>A rs73501260 0.00743
NM_005216.5(DDOST):c.-12A>C rs61739382 0.00736
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_052859.4(RFT1):c.*1533G>A rs139197209 0.00724
NM_052859.4(RFT1):c.*2655T>C rs148022607 0.00723
NM_003859.3(DPM1):c.84G>C (p.Ser28=) rs16995639 0.00708
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863 0.00705
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342 0.00672
NM_024740.2(ALG9):c.1473-14T>C rs187507214 0.00657
NM_012463.4(ATP6V0A2):c.117+14G>A rs144930749 0.00652
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928 0.00643
NM_000303.3(PMM2):c.640-46G>A rs113866602 0.00632
NM_005216.5(DDOST):c.663G>A (p.Gly221=) rs41307775 0.00625
NM_024079.5(ALG8):c.896T>C (p.Ile299Thr) rs61995922 0.00615
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_024105.4(ALG12):c.645G>A (p.Pro215=) rs12167668 0.00577
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_024105.4(ALG12):c.698G>A (p.Arg233Gln) rs114264124 0.00516
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_019109.5(ALG1):c.1080G>A (p.Ala360=) rs143939207 0.00467
NM_002435.3(MPI):c.144+16T>A rs138182675 0.00434
NM_002435.3(MPI):c.144+18T>A rs186045258 0.00434
NM_002435.3(MPI):c.144+20T>A rs190812626 0.00434
NM_004870.4(MPDU1):c.618+14C>T rs11078699 0.00407
NM_024105.4(ALG12):c.1163-19G>A rs200745798 0.00396
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531 0.00394
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623 0.00390
NM_024105.4(ALG12):c.48G>C (p.Leu16=) rs143508665 0.00377
NM_002633.3(PGM1):c.573G>A (p.Ser191=) rs112502842 0.00373
NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile) rs150818619 0.00365
NM_001004127.3(ALG11):c.1032T>G (p.Gly344=) rs143967675 0.00348
NM_001099922.3(ALG13):c.2248-4A>G rs370438099 0.00325
NM_005216.5(DDOST):c.1176C>T (p.Ser392=) rs149576051 0.00320
NM_019109.5(ALG1):c.334A>C (p.Met112Leu) rs113219939 0.00315
NM_019109.5(ALG1):c.539+16G>A rs189715949 0.00311
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062 0.00299
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710 0.00296
NM_178862.3(STT3B):c.1172+15A>G rs60153256 0.00288
NM_024105.4(ALG12):c.1155C>T (p.Pro385=) rs113652023 0.00282
NM_033087.4(ALG2):c.349-17A>G rs193069827 0.00275
NM_033087.4(ALG2):c.84C>G (p.Gly28=) rs61744789 0.00268
NM_003863.4(DPM2):c.3+12A>G rs2274425 0.00262
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_178862.3(STT3B):c.372T>C (p.Asn124=) rs150886803 0.00245
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_024740.2(ALG9):c.1794C>T (p.Tyr598=) rs77191760 0.00238
NM_002435.3(MPI):c.414G>A (p.Met138Ile) rs150217523 0.00227
NM_019109.5(ALG1):c.1092C>G (p.Val364=) rs113602091 0.00221
NM_019109.5(ALG1):c.1222C>T (p.Leu408=) rs149319732 0.00217
NM_024105.4(ALG12):c.501C>T (p.His167=) rs149845730 0.00212
NM_014908.4(DOLK):c.771C>T (p.Ile257=) rs147416890 0.00205
NM_005216.5(DDOST):c.776C>T (p.Ala259Val) rs138061134 0.00201
NM_002633.3(PGM1):c.18A>G (p.Thr6=) rs111246749 0.00193
NM_005216.5(DDOST):c.353-11G>C rs202107268 0.00182
NM_004870.4(MPDU1):c.393C>T (p.Val131=) rs79286384 0.00178
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu) rs79144888 0.00178
NM_024105.4(ALG12):c.359G>A (p.Arg120Gln) rs117687848 0.00169
NM_013339.4(ALG6):c.1398A>T (p.Leu466=) rs140158304 0.00167
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538 0.00166
NM_001004127.3(ALG11):c.44+20G>T rs200503510 0.00153
NM_024740.2(ALG9):c.790-11C>T rs188241987 0.00152
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00150
NM_005216.5(DDOST):c.1209C>T (p.Arg403=) rs148883998 0.00148
NM_003859.3(DPM1):c.296-12T>C rs200030885 0.00143
NM_178862.3(STT3B):c.2073+14T>C rs59520046 0.00143
NM_003859.3(DPM1):c.398+13T>C rs201703497 0.00140
NM_024079.5(ALG8):c.675T>C (p.Asp225=) rs139106381 0.00138
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn) rs150266274 0.00137
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_012463.4(ATP6V0A2):c.1039-12T>C rs190537134 0.00128
NM_001382.4(DPAGT1):c.918-5C>T rs191573465 0.00126
NM_138459.5(NUS1):c.197G>C (p.Arg66Pro) rs539668656 0.00122
NM_033087.4(ALG2):c.288C>T (p.Phe96=) rs542863968 0.00121
NM_001382.4(DPAGT1):c.573C>T (p.Asn191=) rs62641715 0.00117
NM_001382.4(DPAGT1):c.1161+16G>A rs201301096 0.00116
NM_178862.3(STT3B):c.2322A>G (p.Ala774=) rs140420950 0.00109
NM_001099922.3(ALG13):c.150C>T (p.Pro50=) rs147897682 0.00102
NM_005216.5(DDOST):c.893G>A (p.Arg298Gln) rs117925699 0.00098
NM_019109.5(ALG1):c.8C>A (p.Ala3Asp) rs559805054 0.00096
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_019109.5(ALG1):c.21C>T (p.Val7=) rs149388535 0.00093
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102 0.00089
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296 0.00088
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367 0.00085
NM_012463.4(ATP6V0A2):c.1189+12G>T rs377235629 0.00085
NM_024105.4(ALG12):c.768+16C>T rs558809803 0.00083
NM_005216.5(DDOST):c.36C>G (p.Leu12=) rs143329944 0.00081
NM_024592.5(SRD5A3):c.364+19T>C rs201315974 0.00081
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) rs142454880 0.00076
NM_000303.3(PMM2):c.639+19G>C rs145473288 0.00074
NM_000303.3(PMM2):c.640-13C>T rs372181885 0.00073
NM_014908.4(DOLK):c.873C>T (p.Leu291=) rs148646968 0.00073
NM_001382.4(DPAGT1):c.643+11T>A rs185858377 0.00067
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) rs374231091 0.00060
NM_019109.5(ALG1):c.902-20G>A rs74249172 0.00059
NM_001099922.3(ALG13):c.3358A>G (p.Ile1120Val) rs369167525 0.00058
NM_001099922.3(ALG13):c.1327-19A>G rs375412069 0.00048
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=) rs372982045 0.00047
NM_001099922.3(ALG13):c.1006-14G>A rs760527824 0.00045
NM_013339.4(ALG6):c.1452C>T (p.Phe484=) rs150298974 0.00044
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) rs147630977 0.00044
NM_019109.4(ALG1):c.60G>A (p.Leu20=) rs78694906 0.00043
NM_001382.4(DPAGT1):c.729-4A>C rs199873583 0.00041
NM_024105.4(ALG12):c.1362C>T (p.Val454=) rs12163163 0.00041
NM_178862.3(STT3B):c.2401-17G>T rs370120522 0.00041
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006 0.00040
NM_001099922.3(ALG13):c.1971G>A (p.Met657Ile) rs1290639452 0.00039
NM_001099922.3(ALG13):c.2248-15G>C rs139711892 0.00039
NM_014908.4(DOLK):c.1481A>G (p.Asp494Gly) rs145292760 0.00039
NM_002633.3(PGM1):c.987C>T (p.Arg329=) rs79097301 0.00038
NM_024105.4(ALG12):c.465T>C (p.Pro155=) rs201564211 0.00037
NM_001099922.3(ALG13):c.1729+14A>G rs763484848 0.00036
NM_024740.2(ALG9):c.1332C>T (p.His444=) rs139516254 0.00036
NM_052859.4(RFT1):c.436C>T (p.His146Tyr) rs201794647 0.00036
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472 0.00035
NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser) rs149808406 0.00035
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_012463.4(ATP6V0A2):c.1327-16G>A rs149092701 0.00033
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu) rs201959100 0.00033
NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=) rs146432805 0.00031
NM_002435.3(MPI):c.214A>C (p.Ser72Arg) rs146699267 0.00031
NM_005216.5(DDOST):c.1293C>T (p.His431=) rs117634838 0.00031
NM_024740.2(ALG9):c.1659C>T (p.Pro553=) rs2276263 0.00031
NM_138459.5(NUS1):c.537T>A (p.Asp179Glu) rs28362519 0.00030
NM_153741.2(DPM3):c.112C>T (p.Leu38=) rs368529799 0.00028
NM_000303.3(PMM2):c.366C>T (p.Phe122=) rs145714866 0.00027
NM_178862.3(STT3B):c.136G>A (p.Gly46Ser) rs527396203 0.00026
NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp) rs199995104 0.00025
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys) rs201055779 0.00024
NM_001099922.3(ALG13):c.886-16C>A rs780688383 0.00023
NM_001099922.3(ALG13):c.2933-14A>G rs755886617 0.00021
NM_005216.5(DDOST):c.1170+16dup rs566726706 0.00021
NM_012463.4(ATP6V0A2):c.1128C>T (p.Thr376=) rs138172178 0.00021
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442 0.00021
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) rs140835376 0.00021
NM_001099922.3(ALG13):c.2269A>G (p.Met757Val) rs1451116623 0.00020
NM_052859.4(RFT1):c.632C>T (p.Thr211Ile) rs148289202 0.00020
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985 0.00019
NM_014908.4(DOLK):c.1437T>C (p.Ser479=) rs574290806 0.00019
NM_024079.5(ALG8):c.154A>G (p.Ile52Val) rs138293432 0.00019
NM_178862.3(STT3B):c.141C>T (p.Gly47=) rs367626371 0.00019
NM_005216.5(DDOST):c.999C>T (p.Gly333=) rs190780604 0.00017
NM_014908.4(DOLK):c.579G>A (p.Glu193=) rs28365522 0.00017
NM_002435.3(MPI):c.1125G>A (p.Gly375=) rs552854858 0.00016
NM_153741.2(DPM3):c.249C>A (p.Ala83=) rs193215070 0.00016
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr) rs781459134 0.00015
NM_024592.5(SRD5A3):c.108G>T (p.Pro36=) rs200253126 0.00015
NM_019109.5(ALG1):c.629+20C>T rs371416008 0.00014
NM_013339.4(ALG6):c.903-13A>G rs190744579 0.00013
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val) rs138712375 0.00012
NM_001099922.3(ALG13):c.2685C>T (p.His895=) rs374572450 0.00012
NM_024740.2(ALG9):c.62C>T (p.Ala21Val) rs1298391733 0.00012
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=) rs201694504 0.00011
NM_024105.4(ALG12):c.189C>T (p.Val63=) rs190345740 0.00011
NM_138459.5(NUS1):c.732C>T (p.Phe244=) rs142549647 0.00011
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448 0.00010
NM_001099922.3(ALG13):c.2309G>A (p.Gly770Glu) rs751478782 0.00010
NM_001099922.3(ALG13):c.1089T>C (p.Ala363=) rs760208274 0.00009
NM_052859.4(RFT1):c.924G>A (p.Leu308=) rs140603849 0.00009
NM_001099922.3(ALG13):c.2933-15G>T rs372767806 0.00008
NM_001099922.3(ALG13):c.384-5C>T rs763318921 0.00008
NM_001099922.3(ALG13):c.975T>G (p.Thr325=) rs767735916 0.00008
NM_005787.6(ALG3):c.477C>T (p.Cys159=) rs201087932 0.00008
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) rs2271659 0.00008
NM_024740.2(ALG9):c.132-18T>G rs528601164 0.00008
NM_001099922.3(ALG13):c.288C>T (p.Leu96=) rs369867857 0.00007
NM_019109.5(ALG1):c.1179C>G (p.Asn393Lys) rs537333921 0.00007
NM_001099922.3(ALG13):c.2369-19T>C rs376719251 0.00006
NM_001099922.3(ALG13):c.42C>A (p.Asp14Glu) rs200293248 0.00006
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) rs181112338 0.00006
NM_019109.5(ALG1):c.19G>A (p.Val7Ile) rs199891552 0.00006
NM_024105.4(ALG12):c.469+14G>A rs76905919 0.00006
NM_024105.4(ALG12):c.639C>T (p.Ala213=) rs140835842 0.00006
NM_033087.4(ALG2):c.390G>A (p.Arg130=) rs375986920 0.00006
NM_001099922.3(ALG13):c.108A>G (p.Arg36=) rs769838471 0.00005
NM_001099922.3(ALG13):c.2385A>G (p.Glu795=) rs759719376 0.00005
NM_001099922.3(ALG13):c.857A>G (p.Lys286Arg) rs765500818 0.00005
NM_001099922.3(ALG13):c.978T>C (p.Tyr326=) rs375739139 0.00005
NM_004870.4(MPDU1):c.411C>T (p.Tyr137=) rs142551371 0.00005
NM_001099922.3(ALG13):c.1435+20A>G rs368555602 0.00004
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727 0.00004
NM_001099922.3(ALG13):c.2266A>G (p.Thr756Ala) rs748648454 0.00004
NM_001099922.3(ALG13):c.2616A>G (p.Gln872=) rs764400701 0.00004
NM_001099922.3(ALG13):c.3132G>A (p.Ala1044=) rs376626719 0.00004
NM_005216.5(DDOST):c.154+19G>C rs200373074 0.00004
NM_024105.4(ALG12):c.993-19G>A rs185216992 0.00004
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys) rs142459706 0.00003
NM_001099922.3(ALG13):c.2037A>G (p.Pro679=) rs764270660 0.00003
NM_005787.6(ALG3):c.1272G>A (p.Pro424=) rs372724502 0.00003
NM_005787.6(ALG3):c.51A>G (p.Ala17=) rs763727038 0.00003
NM_019109.5(ALG1):c.821G>A (p.Arg274His) rs529013891 0.00003
NM_024079.5(ALG8):c.588A>C (p.Leu196=) rs562915665 0.00003
NM_001099922.3(ALG13):c.2012C>T (p.Pro671Leu) rs770150113 0.00002
NM_001099922.3(ALG13):c.2278G>T (p.Ala760Ser) rs773286994 0.00002
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu) rs745411126 0.00002
NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala) rs3027818 0.00002
NM_001099922.3(ALG13):c.360T>C (p.Gly120=) rs747837898 0.00002
NM_001099922.3(ALG13):c.378C>T (p.Thr126=) rs777042118 0.00002
NM_001099922.3(ALG13):c.419C>T (p.Ala140Val) rs373025706 0.00002
NM_001099922.3(ALG13):c.995A>G (p.Tyr332Cys) rs370098098 0.00002
NM_002633.3(PGM1):c.1027C>T (p.Arg343Trp) rs577589562 0.00002
NM_004870.4(MPDU1):c.652G>T (p.Val218Leu) rs142953652 0.00002
NM_013339.4(ALG6):c.168-17C>G rs536808870 0.00002
NM_033087.4(ALG2):c.484A>G (p.Ile162Val) rs529195050 0.00002
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg) rs372521943 0.00001
NM_001099922.3(ALG13):c.1641A>G (p.Gln547=) rs768589790 0.00001
NM_001099922.3(ALG13):c.2932+17A>G rs760993782 0.00001
NM_001099922.3(ALG13):c.486T>C (p.Phe162=) rs751015058 0.00001
NM_005787.6(ALG3):c.954G>A (p.Ser318=) rs372494174 0.00001
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992 0.00001
NM_013339.4(ALG6):c.1341C>T (p.Val447=) rs777326636 0.00001
NM_013339.4(ALG6):c.987+12A>G rs758406155 0.00001
NM_019109.5(ALG1):c.22C>T (p.Leu8=) rs144712188 0.00001
NM_024079.5(ALG8):c.1276+10G>A rs531081999 0.00001
NM_024079.5(ALG8):c.32G>C (p.Gly11Ala) rs538716086 0.00001
NM_024740.2(ALG9):c.132-14T>G rs782251612 0.00001
NM_024740.2(ALG9):c.132-15T>G rs782361758 0.00001
NM_052859.4(RFT1):c.1208+19A>G rs542117380 0.00001
NM_052859.4(RFT1):c.493G>A (p.Val165Ile) rs571575323 0.00001
NM_153741.2(DPM3):c.60C>T (p.Ala20=) rs371295542 0.00001
NC_000001.11:g.20661380G>C rs537816
NM_000053.4(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000303.3(PMM2):c.*1032C>A rs79686490
NM_000303.3(PMM2):c.*791G>C rs2437722
NM_000303.3(PMM2):c.179-15dup rs145496357
NM_000303.3(PMM2):c.447+19T>C rs11074924
NM_000303.3(PMM2):c.640-28C>G rs181837170
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638
NM_001099922.3(ALG13):c.1186A>C (p.Arg396=)
NM_001099922.3(ALG13):c.1250+8del rs2148114059
NM_001099922.3(ALG13):c.1601+11G>A rs770867470
NM_001099922.3(ALG13):c.1818G>A (p.Lys606=)
NM_001099922.3(ALG13):c.2145T>C (p.Tyr715=)
NM_001099922.3(ALG13):c.2248-14TC[2] rs746217514
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2457+15_2457+17del rs761459857
NM_001099922.3(ALG13):c.2457+16T>C
NM_001099922.3(ALG13):c.2457+17A>C
NM_001099922.3(ALG13):c.2754ACC[13] (p.Pro944_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup) rs56717389
NM_001099922.3(ALG13):c.2797CCT[9] (p.Pro942_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2798_2799insACCTCC (p.Pro944_Pro945dup) rs1569522034
NM_001099922.3(ALG13):c.2860A>G (p.Asn954Asp)
NM_001099922.3(ALG13):c.288C>G (p.Leu96=)
NM_001099922.3(ALG13):c.2987G>A (p.Ser996Asn)
NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys) rs372990620
NM_001099922.3(ALG13):c.3343A>G (p.Ile1115Val)
NM_001099922.3(ALG13):c.383+8A>G
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001099922.3(ALG13):c.801A>G (p.Ser267=)
NM_001099922.3(ALG13):c.82-10C>T
NM_001099922.3(ALG13):c.834+14A>G
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser) rs753556936
NM_002435.3(MPI):c.16+18dup
NM_002435.3(MPI):c.670+9A>G rs7495739
NM_002435.3(MPI):c.678C>A (p.Ala226=) rs199972529
NM_002633.3(PGM1):c.1145-6del rs2100998326
NM_002633.3(PGM1):c.1280+22dup
NM_003859.3(DPM1):c.679-7_679-6insTTT rs11480415
NM_003859.3(DPM1):c.679-8dup rs11483542
NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro) rs137983973
NM_005216.5(DDOST):c.*40A>G rs6893
NM_005216.5(DDOST):c.1063+34dup rs11428148
NM_012463.4(ATP6V0A2):c.118-6del
NM_012463.4(ATP6V0A2):c.1190-7dup
NM_012463.4(ATP6V0A2):c.1724+20del rs375845531
NM_012463.4(ATP6V0A2):c.1724+20dup
NM_012463.4(ATP6V0A2):c.1725-10del
NM_012463.4(ATP6V0A2):c.2466-3del
NM_012463.4(ATP6V0A2):c.2466-3dup rs370511382
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.522-13del rs140638516
NM_013339.4(ALG6):c.1327-9dup rs1236127359
NM_013339.4(ALG6):c.257+10del
NM_013339.4(ALG6):c.346+6dup
NM_013339.4(ALG6):c.681-3del rs763183173
NM_013339.4(ALG6):c.988-14del
NM_013339.4(ALG6):c.988-8dup rs779365053
NM_015354.3(NUP188):c.-13C>T rs3750324
NM_019109.5(ALG1):c.208+135dup rs34061670
NM_019109.5(ALG1):c.208+14G>A
NM_019109.5(ALG1):c.208+16_208+19dup rs35400794
NM_019109.5(ALG1):c.209-4del
NM_019109.5(ALG1):c.390+13C>A rs62036244
NM_019109.5(ALG1):c.390+13C>T rs62036244
NM_019109.5(ALG1):c.630-19C>T rs371014838
NM_019109.5(ALG1):c.741-13del rs749328532
NM_019109.5(ALG1):c.741-13dup
NM_024079.5(ALG8):c.1277-16del
NM_024079.5(ALG8):c.174+30del rs59662312
NM_024079.5(ALG8):c.369-6A>G rs201483866
NM_024105.4(ALG12):c.-203G>A rs9616379
NM_024105.4(ALG12):c.1047C>G (p.Ile349Met) rs182006999
NM_024105.4(ALG12):c.162+12del
NM_024105.4(ALG12):c.406A>G (p.Met136Val)
NM_024592.5(SRD5A3):c.*968C>T rs78470512
NM_024740.2(ALG9):c.1018+19G>A
NM_024740.2(ALG9):c.132-13del
NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser) rs12575909
NM_024740.2(ALG9):c.1734-17del
NM_033087.4(ALG2):c.760T>C (p.Leu254=) rs62562374
NM_052859.4(RFT1):c.267-13dup
NM_052859.4(RFT1):c.267-20del
NM_052859.4(RFT1):c.64-16del rs776377276
NM_138459.5(NUS1):c.416-23_416-7del rs780531527
NM_138459.5(NUS1):c.542-14_542-11del rs777604444
NM_138459.5(NUS1):c.621T>C (p.Phe207=)
NM_138459.5(NUS1):c.691+12dup rs1241006666
NM_138459.5(NUS1):c.849A>G (p.Gln283=) rs550676
NM_178862.3(STT3B):c.2401-5dup
NM_201400.4(EEF2KMT):c.*1074C>T rs1957081691
NM_201400.4(EEF2KMT):c.*893del rs1381360907
NM_201400.4(EEF2KMT):c.*893dup

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.