ClinVar Miner

List of variants in gene B3GLCT reported as uncertain significance by Eurofins Ntd Llc (ga)

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
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.288C>T (p.Leu96=) rs9542305 0.00055
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 0.00001
NM_194318.4(B3GLCT):c.1438C>T (p.Pro480Ser) rs886043655
NM_194318.4(B3GLCT):c.190A>G (p.Ser64Gly) rs777020391

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