List of variants in gene B3GALT6 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val)	rs200646244	0.00065
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln)	rs1131691530	0.00041
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly)	rs900539403	0.00008
NM_080605.4(B3GALT6):c.313G>C (p.Glu105Gln)	rs1199531500	0.00004
NM_080605.4(B3GALT6):c.676C>T (p.His226Tyr)	rs746174922	0.00004
NM_080605.4(B3GALT6):c.19_30dup (p.Ala7_Arg10dup)	rs1553151150
NM_080605.4(B3GALT6):c.338A>G (p.Gln113Arg)	rs1064797105
NM_080605.4(B3GALT6):c.340G>A (p.Ala114Thr)
NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu)	rs558454078
NM_080605.4(B3GALT6):c.583G>C (p.Gly195Arg)	rs551984021
NM_080605.4(B3GALT6):c.688_708dup (p.Leu230_Arg236dup)	rs1557526692
NM_080605.4(B3GALT6):c.693C>G (p.Ser231Arg)	rs1570499154

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