ClinVar Miner

List of variants in gene combination B3GALT2, CDC73

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_003783.3(B3GALT2):c.367T>G (p.Tyr123Asp) rs41265203 0.00192
NM_024529.5(CDC73):c.973-23487G>A rs765816443 0.00001
GRCh37/hg19 1q31.2(chr1:193107795-193333347)x3
GRCh37/hg19 1q31.2(chr1:193148731-193231761)x3
NC_000001.10:g.(?_193091331)_(193172992_?)del
NC_000001.10:g.(?_193094232)_(193219842_?)dup
NC_000001.10:g.(?_193110960)_(193219842_?)dup
NC_000001.11:g.(?_193122201)_(193250712_?)del
NC_000001.11:g.(?_193122201)_(193250712_?)dup
NC_000001.11:g.(?_193141840)_(193250722_?)dup
NM_003783.3(B3GALT2):c.1007G>A (p.Arg336His)
NM_003783.3(B3GALT2):c.1185C>G (p.Asn395Lys)
NM_003783.3(B3GALT2):c.1250G>C (p.Arg417Pro)
NM_003783.3(B3GALT2):c.153C>T (p.Gly51=)
NM_003783.3(B3GALT2):c.194G>A (p.Arg65Gln)
NM_003783.3(B3GALT2):c.239G>A (p.Arg80Gln)
NM_003783.3(B3GALT2):c.275G>A (p.Arg92Lys)
NM_003783.3(B3GALT2):c.333C>T (p.Gly111=)
NM_003783.3(B3GALT2):c.339G>T (p.Glu113Asp)
NM_003783.3(B3GALT2):c.349A>C (p.Ser117Arg)
NM_003783.3(B3GALT2):c.377A>G (p.Lys126Arg)
NM_003783.3(B3GALT2):c.403C>T (p.His135Tyr)
NM_003783.3(B3GALT2):c.539C>T (p.Ala180Val)
NM_003783.3(B3GALT2):c.548T>C (p.Ile183Thr)
NM_003783.3(B3GALT2):c.552A>C (p.Gln184His)
NM_003783.3(B3GALT2):c.598T>C (p.Tyr200His)
NM_003783.3(B3GALT2):c.607C>T (p.Arg203Cys)
NM_003783.3(B3GALT2):c.779A>T (p.Glu260Val)
NM_003783.3(B3GALT2):c.791A>G (p.Asn264Ser)
NM_003783.3(B3GALT2):c.879T>A (p.Asp293Glu)
NM_003783.3(B3GALT2):c.910C>T (p.Pro304Ser)
NM_003783.3(B3GALT2):c.958T>A (p.Ser320Thr)

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