List of variants in gene B4GALNT1 reported as pathogenic for hereditary spastic paraplegia

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter)	rs398122382	0.00001
NM_001478.5(B4GALNT1):c.1002G>T (p.Lys334Asn)	rs1471760048
NM_001478.5(B4GALNT1):c.1298A>C (p.Asp433Ala)	rs879255242
NM_001478.5(B4GALNT1):c.1415G>C (p.Arg472Pro)	rs759528128
NM_001478.5(B4GALNT1):c.1513C>T (p.Arg505Cys)	rs1884842111
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)	rs745744124
NM_001478.5(B4GALNT1):c.358C>T (p.Gln120Ter)	rs879255241
NM_001478.5(B4GALNT1):c.395del (p.Pro132fs)	rs766591558
NM_001478.5(B4GALNT1):c.512C>T (p.Ser171Phe)	rs759353736
NM_001478.5(B4GALNT1):c.532-2A>G	rs1885117995
NM_001478.5(B4GALNT1):c.584del (p.Gly195fs)

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