List of variants in gene combination LOC130058566, XYLT1 reported as uncertain significance for Desbuquois dysplasia 1

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_022166.4(XYLT1):c.425C>T (p.Pro142Leu)	rs143159780	0.00043
NM_022166.4(XYLT1):c.440G>A (p.Arg147Gln)	rs150531859	0.00015
NM_022166.4(XYLT1):c.534G>T (p.Gln178His)	rs142578304	0.00004
NM_022166.4(XYLT1):c.434A>C (p.Lys145Thr)	rs760513040	0.00002
NM_022166.4(XYLT1):c.416C>T (p.Ser139Phe)	rs1251084213	0.00001
NM_022166.4(XYLT1):c.508C>T (p.Pro170Ser)	rs1284737489	0.00001
NM_022166.4(XYLT1):c.412T>C (p.Phe138Leu)	rs2033690309
NM_022166.4(XYLT1):c.422G>A (p.Arg141Gln)
NM_022166.4(XYLT1):c.436G>A (p.Val146Met)	rs2033689677
NM_022166.4(XYLT1):c.515C>T (p.Thr172Ile)
NM_022166.4(XYLT1):c.517C>G (p.Gln173Glu)
NM_022166.4(XYLT1):c.553C>G (p.Pro185Ala)
NM_022166.4(XYLT1):c.560G>A (p.Ser187Asn)
NM_022166.4(XYLT1):c.566A>G (p.Gln189Arg)

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