List of variants in gene HSPG2 studied for Lethal Kniest-like syndrome; Schwartz-Jampel syndrome

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)	rs142736845	0.00133
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val)	rs140954748	0.00078
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn)	rs146309392	0.00066
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)	rs149159881	0.00049
NM_005529.7(HSPG2):c.878G>A (p.Arg293His)	rs139873789	0.00020
NM_005529.7(HSPG2):c.4955+3A>T	rs769130391	0.00003
NM_005529.7(HSPG2):c.10722dup (p.Pro3576fs)	rs2152695644
NM_005529.7(HSPG2):c.212G>A (p.Ser71Asn)	rs781177979

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