ClinVar Miner

List of variants in gene B3GLCT studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.348T>C (p.His116=) rs4943266 0.96681
NM_194318.4(B3GLCT):c.121-120G>C rs2147515 0.95735
NM_194318.4(B3GLCT):c.781-125G>C rs1028751 0.90446
NM_194318.4(B3GLCT):c.850+151A>G rs1409373 0.88627
NM_194318.4(B3GLCT):c.*1801A>G rs912604 0.67908
NM_194318.4(B3GLCT):c.*1836G>A rs912603 0.67779
NM_194318.4(B3GLCT):c.*2486T>C rs4057 0.66872
NM_194318.4(B3GLCT):c.*2336A>C rs13080 0.66864
NM_194318.4(B3GLCT):c.*2137T>C rs2056443 0.66166
NM_194318.4(B3GLCT):c.1108G>A (p.Glu370Lys) rs1041073 0.66142
NM_194318.4(B3GLCT):c.*2067A>G rs2056445 0.66105
NM_194318.4(B3GLCT):c.850+81G>A rs4065552 0.62176
NM_194318.4(B3GLCT):c.*2082G>T rs2056444 0.58519
NM_194318.4(B3GLCT):c.347+20C>G rs9542307 0.38493
NM_194318.4(B3GLCT):c.347+4C>T rs9564692 0.35942
NM_194318.4(B3GLCT):c.780+58A>G rs728930 0.19910
NM_194318.4(B3GLCT):c.*36A>G rs112937254 0.15709
NM_194318.4(B3GLCT):c.*1644A>T rs876540 0.10159
NM_194318.4(B3GLCT):c.*1693G>C rs17703938 0.05717
NM_194318.4(B3GLCT):c.1105G>A (p.Gly369Ser) rs34638481 0.02336
NM_194318.4(B3GLCT):c.271-12T>C rs117111131 0.01874
NM_194318.4(B3GLCT):c.672C>T (p.Tyr224=) rs35019745 0.01584
NM_194318.4(B3GLCT):c.*2188T>A rs60022887 0.00634
NM_194318.4(B3GLCT):c.*637A>G rs149604950 0.00605
NM_194318.4(B3GLCT):c.*1197A>T rs147350414 0.00601
NM_194318.4(B3GLCT):c.*1516A>G rs876539 0.00554
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061 0.00488
NM_194318.4(B3GLCT):c.1134C>T (p.Tyr378=) rs34854594 0.00449
NM_194318.4(B3GLCT):c.*1498C>T rs183306635 0.00279
NM_194318.4(B3GLCT):c.*813A>G rs148632976 0.00271
NM_194318.4(B3GLCT):c.*439T>C rs138331880 0.00241
NM_194318.4(B3GLCT):c.*1329T>A rs139507102 0.00240
NM_194318.4(B3GLCT):c.*158G>A rs543066424 0.00240
NM_194318.4(B3GLCT):c.271-8T>C rs183322816 0.00199
NM_194318.4(B3GLCT):c.1329+6G>T rs200460848 0.00150
NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=) rs114941150 0.00147
NM_194318.4(B3GLCT):c.1064+10C>T rs143013995 0.00131
NM_194318.4(B3GLCT):c.1207G>A (p.Val403Ile) rs147485868 0.00128
NM_194318.4(B3GLCT):c.*669G>A rs373155178 0.00120
NM_194318.4(B3GLCT):c.*127G>A rs181325514 0.00115
NM_194318.4(B3GLCT):c.450C>A (p.Asp150Glu) rs141743580 0.00113
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_194318.4(B3GLCT):c.*1612A>T rs139632638 0.00082
NM_194318.4(B3GLCT):c.850+11G>A rs199615610 0.00076
NM_194318.4(B3GLCT):c.*970G>C rs372046898 0.00071
NM_194318.4(B3GLCT):c.1065-19G>T rs28668251 0.00064
NM_194318.4(B3GLCT):c.*755T>G rs533230330 0.00063
NM_194318.4(B3GLCT):c.1185-6C>G rs202096313 0.00055
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=) rs9542305 0.00055
NM_194318.4(B3GLCT):c.*888T>A rs890281801 0.00052
NM_194318.4(B3GLCT):c.*2101T>C rs80102047 0.00046
NM_194318.4(B3GLCT):c.902A>T (p.Tyr301Phe) rs114184584 0.00034
NM_194318.4(B3GLCT):c.1330-5T>C rs377657178 0.00031
NM_194318.4(B3GLCT):c.*751A>G rs762054049 0.00029
NM_194318.4(B3GLCT):c.*1698C>T rs534963508 0.00023
NM_194318.4(B3GLCT):c.1010G>A (p.Arg337His) rs199794968 0.00022
NM_194318.4(B3GLCT):c.181G>A (p.Val61Ile) rs375667011 0.00021
NM_194318.4(B3GLCT):c.*1545C>T rs185506947 0.00019
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=) rs114425388 0.00018
NM_194318.4(B3GLCT):c.537A>C (p.Thr179=) rs756907968 0.00016
NM_194318.4(B3GLCT):c.170G>C (p.Gly57Ala) rs577136660 0.00015
NM_194318.4(B3GLCT):c.1404C>T (p.Ile468=) rs372748811 0.00014
NM_194318.4(B3GLCT):c.460-8T>A rs761519440 0.00011
NM_194318.4(B3GLCT):c.661-7G>A rs371488075 0.00011
NM_194318.4(B3GLCT):c.129G>C (p.Glu43Asp) rs572785989 0.00009
NM_194318.4(B3GLCT):c.344C>T (p.Pro115Leu) rs142421716 0.00009
NM_194318.4(B3GLCT):c.*815C>T rs756575776 0.00007
NM_194318.4(B3GLCT):c.315A>G (p.Glu105=) rs200376294 0.00007
NM_194318.4(B3GLCT):c.*225G>A rs1355762124 0.00006
NM_194318.4(B3GLCT):c.127G>A (p.Glu43Lys) rs779035727 0.00006
NM_194318.4(B3GLCT):c.180C>T (p.Phe60=) rs370978491 0.00006
NM_194318.4(B3GLCT):c.347+5G>A rs80338850 0.00006
NM_194318.4(B3GLCT):c.504A>G (p.Ile168Met) rs116639305 0.00006
NM_194318.4(B3GLCT):c.71-9T>C rs569540121 0.00006
NM_194318.4(B3GLCT):c.1173G>A (p.Thr391=) rs369715616 0.00005
NM_194318.4(B3GLCT):c.1447G>A (p.Glu483Lys) rs780383474 0.00005
NM_194318.4(B3GLCT):c.932C>T (p.Thr311Ile) rs201027107 0.00005
NM_194318.4(B3GLCT):c.*1870A>C rs1257610214 0.00004
NM_194318.4(B3GLCT):c.728A>G (p.Asn243Ser) rs371506964 0.00004
NM_194318.4(B3GLCT):c.1372G>A (p.Val458Ile) rs201514470 0.00003
NM_194318.4(B3GLCT):c.673A>G (p.Ile225Val) rs766659397 0.00003
NM_194318.4(B3GLCT):c.716A>G (p.Glu239Gly) rs367648804 0.00003
NM_194318.4(B3GLCT):c.*352A>G rs775568066 0.00002
NM_194318.4(B3GLCT):c.*726C>T rs1875855520 0.00002
NM_194318.4(B3GLCT):c.1185-15T>C rs1005959700 0.00002
NM_194318.4(B3GLCT):c.1446C>T (p.Asp482=) rs756603158 0.00002
NM_194318.4(B3GLCT):c.1451A>G (p.Asp484Gly) rs1478212820 0.00002
NM_194318.4(B3GLCT):c.270+4C>T rs759257291 0.00002
NM_194318.4(B3GLCT):c.335C>T (p.Pro112Leu) rs372324692 0.00002
NM_194318.4(B3GLCT):c.336G>A (p.Pro112=) rs751146291 0.00002
NM_194318.4(B3GLCT):c.87T>A (p.Ser29=) rs148164370 0.00002
NM_194318.4(B3GLCT):c.*1449T>C rs1257066909 0.00001
NM_194318.4(B3GLCT):c.*1719A>G rs1427207406 0.00001
NM_194318.4(B3GLCT):c.*2373C>G rs1416911376 0.00001
NM_194318.4(B3GLCT):c.*286T>A rs1875832919 0.00001
NM_194318.4(B3GLCT):c.*410A>G rs187473281 0.00001
NM_194318.4(B3GLCT):c.105G>A (p.Glu35=) rs776159472 0.00001
NM_194318.4(B3GLCT):c.1102T>G (p.Ser368Ala) rs1352782339 0.00001
NM_194318.4(B3GLCT):c.1127A>G (p.Glu376Gly) rs1330750557 0.00001
NM_194318.4(B3GLCT):c.1144C>T (p.Leu382=) rs771937233 0.00001
NM_194318.4(B3GLCT):c.1161C>T (p.Tyr387=) rs777629212 0.00001
NM_194318.4(B3GLCT):c.1184+3A>G rs1338898111 0.00001
NM_194318.4(B3GLCT):c.1330-3C>T rs371236148 0.00001
NM_194318.4(B3GLCT):c.264T>C (p.Leu88=) rs751441354 0.00001
NM_194318.4(B3GLCT):c.297T>C (p.His99=) rs368693579 0.00001
NM_194318.4(B3GLCT):c.347+15C>T rs780562438 0.00001
NM_194318.4(B3GLCT):c.421A>G (p.Lys141Glu) rs369251610 0.00001
NM_194318.4(B3GLCT):c.459+1G>A rs767361165 0.00001
NM_194318.4(B3GLCT):c.466T>A (p.Phe156Ile) rs976708734 0.00001
NM_194318.4(B3GLCT):c.704C>T (p.Thr235Ile) rs150444977 0.00001
NC_000013.10:g.(?_31774222)_(31860976_?)dup
NC_000013.10:g.(?_31835063)_(31835239_?)del
NC_000013.11:g.(?_31200065)_(31286839_?)dup
NM_194318.4(B3GLCT):c.*1256G>C rs1875890300
NM_194318.4(B3GLCT):c.*1700T>C rs182680558
NM_194318.4(B3GLCT):c.*1752C>T rs200044296
NM_194318.4(B3GLCT):c.*2177T>G rs1875943447
NM_194318.4(B3GLCT):c.*2186G>A rs534851411
NM_194318.4(B3GLCT):c.*2446A>G rs9601137
NM_194318.4(B3GLCT):c.*2508T>C rs1875960073
NM_194318.4(B3GLCT):c.*29G>T rs1060709
NM_194318.4(B3GLCT):c.*403T>A rs1875840649
NM_194318.4(B3GLCT):c.*406A>G rs1875840775
NM_194318.4(B3GLCT):c.*510A>G rs1376758293
NM_194318.4(B3GLCT):c.*522G>A rs1047407059
NM_194318.4(B3GLCT):c.*624G>A rs996047550
NM_194318.4(B3GLCT):c.*710A>T rs1340656434
NM_194318.4(B3GLCT):c.*881T>C rs1875867573
NM_194318.4(B3GLCT):c.*889A>G rs2025729
NM_194318.4(B3GLCT):c.*889A>T rs2025729
NM_194318.4(B3GLCT):c.1015C>T (p.Gln339Ter)
NM_194318.4(B3GLCT):c.101_104del (p.Lys34fs) rs759505367
NM_194318.4(B3GLCT):c.1027G>T (p.Ala343Ser) rs370910355
NM_194318.4(B3GLCT):c.1064+5G>T rs749084947
NM_194318.4(B3GLCT):c.1098T>A (p.Tyr366Ter) rs80338852
NM_194318.4(B3GLCT):c.1135G>A (p.Gly379Ser) rs375168040
NM_194318.4(B3GLCT):c.1140C>A (p.Tyr380Ter) rs199908878
NM_194318.4(B3GLCT):c.1140C>T (p.Tyr380=)
NM_194318.4(B3GLCT):c.1167C>G (p.Tyr389Ter) rs1875117878
NM_194318.4(B3GLCT):c.1178G>A (p.Gly393Glu) rs267606675
NM_194318.4(B3GLCT):c.1184+1G>A rs2137936107
NM_194318.4(B3GLCT):c.1185-6C>A
NM_194318.4(B3GLCT):c.1191C>T (p.Val397=)
NM_194318.4(B3GLCT):c.120+10C>A
NM_194318.4(B3GLCT):c.1206C>T (p.Ala402=)
NM_194318.4(B3GLCT):c.1221C>T (p.Leu407=)
NM_194318.4(B3GLCT):c.1299C>A (p.Ile433=)
NM_194318.4(B3GLCT):c.1318C>G (p.Leu440Val) rs142935066
NM_194318.4(B3GLCT):c.1324C>T (p.His442Tyr)
NM_194318.4(B3GLCT):c.1330-15C>G
NM_194318.4(B3GLCT):c.1330-18T>C
NM_194318.4(B3GLCT):c.1330-19CT[2]
NM_194318.4(B3GLCT):c.1334G>A (p.Arg445Gln)
NM_194318.4(B3GLCT):c.1338G>A (p.Pro446=)
NM_194318.4(B3GLCT):c.1347C>A (p.Tyr449Ter) rs2137957629
NM_194318.4(B3GLCT):c.1370A>G (p.Gln457Arg) rs2137957679
NM_194318.4(B3GLCT):c.1405G>A (p.Asp469Asn)
NM_194318.4(B3GLCT):c.1405G>T (p.Asp469Tyr) rs141036237
NM_194318.4(B3GLCT):c.1487A>G (p.Glu496Gly) rs1875814798
NM_194318.4(B3GLCT):c.160+19T>A rs775283192
NM_194318.4(B3GLCT):c.161-1G>T
NM_194318.4(B3GLCT):c.161-8dup rs757600274
NM_194318.4(B3GLCT):c.206_207del (p.Phe69fs)
NM_194318.4(B3GLCT):c.230dup (p.Leu77fs) rs1593258510
NM_194318.4(B3GLCT):c.256G>T (p.Ala86Ser) rs1870254261
NM_194318.4(B3GLCT):c.270+15C>G rs1336731357
NM_194318.4(B3GLCT):c.270+9C>T rs567259766
NM_194318.4(B3GLCT):c.273G>A (p.Glu91=)
NM_194318.4(B3GLCT):c.289C>T (p.Leu97Phe)
NM_194318.4(B3GLCT):c.348-8T>C rs1871262659
NM_194318.4(B3GLCT):c.384T>A (p.Ile128=)
NM_194318.4(B3GLCT):c.434C>T (p.Thr145Ile)
NM_194318.4(B3GLCT):c.460-10del rs760674958
NM_194318.4(B3GLCT):c.496G>A (p.Ala166Thr)
NM_194318.4(B3GLCT):c.578G>A (p.Ser193Asn)
NM_194318.4(B3GLCT):c.585A>G (p.Pro195=)
NM_194318.4(B3GLCT):c.596+10T>C rs2137830622
NM_194318.4(B3GLCT):c.597-23del rs3215787
NM_194318.4(B3GLCT):c.661-7G>T rs371488075
NM_194318.4(B3GLCT):c.694C>G (p.Pro232Ala) rs890958730
NM_194318.4(B3GLCT):c.705C>T (p.Thr235=)
NM_194318.4(B3GLCT):c.71-1G>T
NM_194318.4(B3GLCT):c.71-5_71-4del
NM_194318.4(B3GLCT):c.71-5del rs398022187
NM_194318.4(B3GLCT):c.738C>T (p.Asp246=)
NM_194318.4(B3GLCT):c.744C>T (p.Tyr248=) rs761109871
NM_194318.4(B3GLCT):c.756A>G (p.Thr252=) rs771139085
NM_194318.4(B3GLCT):c.764C>A (p.Ser255Tyr) rs1182400359
NM_194318.4(B3GLCT):c.774G>A (p.Pro258=)
NM_194318.4(B3GLCT):c.781-12del rs747597532
NM_194318.4(B3GLCT):c.781-34_781-31dup rs137981677
NM_194318.4(B3GLCT):c.786G>A (p.Lys262=) rs373860865
NM_194318.4(B3GLCT):c.851-1G>T
NM_194318.4(B3GLCT):c.856A>G (p.Ile286Val) rs116754126
NM_194318.4(B3GLCT):c.856A>T (p.Ile286Phe)
NM_194318.4(B3GLCT):c.877A>G (p.Ser293Gly) rs1873231431
NM_194318.4(B3GLCT):c.881_889del (p.Gln294_Ser296del)
NM_194318.4(B3GLCT):c.903T>C (p.Tyr301=)
NM_194318.4(B3GLCT):c.924C>G (p.Ser308=) rs1047354805
NM_194318.4(B3GLCT):c.968A>G (p.His323Arg) rs1566082139

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