List of variants in gene SLC35C1 reported as pathogenic for Leukocyte adhesion deficiency type II

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_018389.5(SLC35C1):c.942C>G (p.Tyr314Ter)	rs766512058	0.00001
NM_018389.5(SLC35C1):c.367del (p.Val123fs)	rs2085872592
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys)	rs28939087
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)	rs587777655
NM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter)	rs1470970903
NM_018389.5(SLC35C1):c.891T>A (p.Asn297Lys)	rs2134598310
NM_018389.5(SLC35C1):c.91G>T (p.Glu31Ter)	rs398124345
NM_018389.5(SLC35C1):c.923C>G (p.Thr308Arg)	rs28937886

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