List of variants in gene B3GLCT reported by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 27

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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.1108G>A (p.Glu370Lys)	rs1041073	0.66142
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.271-12T>C	rs117111131	0.01874
NM_194318.4(B3GLCT):c.672C>T (p.Tyr224=)	rs35019745	0.01584
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.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.660+1G>A	rs80338851	0.00083
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=)	rs9542305	0.00055
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.181G>A (p.Val61Ile)	rs375667011	0.00021
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=)	rs114425388	0.00018
NM_194318.4(B3GLCT):c.932C>T (p.Thr311Ile)	rs201027107	0.00005
NM_194318.4(B3GLCT):c.728A>G (p.Asn243Ser)	rs371506964	0.00004
NM_194318.4(B3GLCT):c.1046A>G (p.Asp349Gly)	rs794727080	0.00003
NM_194318.4(B3GLCT):c.1065-1G>A	rs371904655
NM_194318.4(B3GLCT):c.1067_1082del (p.Ile356fs)	rs794727108
NM_194318.4(B3GLCT):c.1438C>T (p.Pro480Ser)	rs886043655
NM_194318.4(B3GLCT):c.161-8dup	rs757600274
NM_194318.4(B3GLCT):c.190A>G (p.Ser64Gly)	rs777020391
NM_194318.4(B3GLCT):c.71-5del	rs398022187

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