List of variants in gene ST3GAL5 reported as likely pathogenic for autosomal recessive disease

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_003896.4(ST3GAL5):c.282del (p.Met94fs)	rs1383734078	0.00002
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser)	rs367638648
NM_003896.4(ST3GAL5):c.207-2A>C	rs2104059095
NM_003896.4(ST3GAL5):c.353del (p.Lys118fs)	rs754643632
NM_003896.4(ST3GAL5):c.662+2T>C
NM_003896.4(ST3GAL5):c.663-1G>A
NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp)	rs1573589807
NM_003896.4(ST3GAL5):c.83-4119G>A
NM_003896.4(ST3GAL5):c.850-1G>A	rs2103936382

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