ClinVar Miner

List of variants in gene HSPG2 reported as not provided for Lethal Kniest-like syndrome; Schwartz-Jampel syndrome type 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005529.7(HSPG2):c.11200G>A (p.Glu3734Lys)	rs757541406	0.00010
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu)	rs145155624

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