ClinVar Miner

List of variants in gene B3GLCT reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.1065-142T>C rs1041074 0.99635
NM_194318.4(B3GLCT):c.347+233A>G rs1022885 0.97528
NM_194318.4(B3GLCT):c.348T>C (p.His116=) rs4943266 0.96681
NM_194318.4(B3GLCT):c.121-120G>C rs2147515 0.95987
NM_194318.4(B3GLCT):c.660+250A>G rs1924818 0.95134
NM_194318.4(B3GLCT):c.661-111G>A rs912600 0.93574
NM_194318.4(B3GLCT):c.781-125G>C rs1028751 0.90938
NM_194318.4(B3GLCT):c.850+151A>G rs1409373 0.88627
NM_194318.4(B3GLCT):c.660+184A>G rs1924817 0.68178
NM_194318.4(B3GLCT):c.1108G>A (p.Glu370Lys) rs1041073 0.66898
NM_194318.4(B3GLCT):c.850+81G>A rs4065552 0.63045
NM_194318.4(B3GLCT):c.596+50del rs34409451 0.38904
NM_194318.4(B3GLCT):c.347+269A>G rs2137075 0.38519
NM_194318.4(B3GLCT):c.347+20C>G rs9542307 0.37504
NM_194318.4(B3GLCT):c.596+156G>A rs4943289 0.36305
NM_194318.4(B3GLCT):c.347+4C>T rs9564692 0.35942
NM_194318.4(B3GLCT):c.965-88G>C rs9543606 0.22393
NM_194318.4(B3GLCT):c.964+141T>A rs7993050 0.22374
NM_194318.4(B3GLCT):c.1064+103G>A rs1397890 0.21672
NM_194318.4(B3GLCT):c.780+58A>G rs728930 0.20059
NM_194318.4(B3GLCT):c.271-67T>C rs9542300 0.18900
NM_194318.4(B3GLCT):c.661-263A>G rs9543234 0.15618
NM_194318.4(B3GLCT):c.*36A>G rs112937254 0.15315
NM_194318.4(B3GLCT):c.121-83A>G rs3818415 0.14175
NM_194318.4(B3GLCT):c.660+212A>G rs17075739 0.04593
NM_194318.4(B3GLCT):c.347+95A>G rs116422728 0.04458
NM_194318.4(B3GLCT):c.460-72T>C rs73172886 0.03985
NM_194318.4(B3GLCT):c.660+83A>G rs77202425 0.02602
NM_194318.4(B3GLCT):c.1105G>A (p.Gly369Ser) rs34638481 0.02305
NM_194318.4(B3GLCT):c.271-12T>C rs117111131 0.01853
NM_194318.4(B3GLCT):c.661-248G>A rs117121925 0.01450
NM_194318.4(B3GLCT):c.271-209A>G rs112738167 0.01197
NM_194318.4(B3GLCT):c.851-328G>C rs17075806 0.01026
NM_194318.4(B3GLCT):c.271-38C>T rs79127728 0.00732
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061 0.00488
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00080
NM_194318.4(B3GLCT):c.1010G>A (p.Arg337His) rs199794968 0.00022
NM_194318.4(B3GLCT):c.459+1G>A rs767361165 0.00001
NM_194318.4(B3GLCT):c.*29G>T rs1060709
NM_194318.4(B3GLCT):c.1065-1G>A rs371904655
NM_194318.4(B3GLCT):c.1184+302dup rs71699160
NM_194318.4(B3GLCT):c.1405G>T (p.Asp469Tyr) rs141036237
NM_194318.4(B3GLCT):c.1483C>T (p.Arg495Ter) rs770760169
NM_194318.4(B3GLCT):c.238dup (p.Ser80fs) rs772504695
NM_194318.4(B3GLCT):c.347+199dup rs200720428
NM_194318.4(B3GLCT):c.463T>C (p.Trp155Arg) rs772799456
NM_194318.4(B3GLCT):c.597-23del rs3215787
NM_194318.4(B3GLCT):c.686G>A (p.Gly229Asp)
NM_194318.4(B3GLCT):c.71-5del rs398022187
NM_194318.4(B3GLCT):c.71-6_71-5del rs398022187
NM_194318.4(B3GLCT):c.781-34_781-31dup rs137981677

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