List of variants in gene HSPG2 reported as benign for Connective tissue disorder

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: 27

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HGVS	dbSNP	gnomAD frequency
NM_005529.7(HSPG2):c.10248C>T (p.Ser3416=)	rs41310390	0.04950
NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile)	rs17459097	0.04258
NM_005529.7(HSPG2):c.8939T>A (p.Leu2980His)	rs2229489	0.03837
NM_005529.7(HSPG2):c.8026-5T>C	rs35917892	0.03832
NM_005529.7(HSPG2):c.7806C>A (p.Val2602=)	rs12737091	0.03827
NM_005529.7(HSPG2):c.5899G>A (p.Val1967Ile)	rs2229475	0.03821
NM_005529.7(HSPG2):c.6402G>A (p.Val2134=)	rs12742444	0.03814
NM_005529.7(HSPG2):c.12558C>T (p.Ser4186=)	rs11552570	0.03296
NM_005529.7(HSPG2):c.11601C>T (p.Tyr3867=)	rs112494360	0.03245
NM_005529.7(HSPG2):c.12212C>T (p.Ala4071Val)	rs74859884	0.02997
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met)	rs116788687	0.01908
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His)	rs62618730	0.01621
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg)	rs41266007	0.01322
NM_005529.7(HSPG2):c.5998-7A>G	rs148336692	0.01243
NM_005529.7(HSPG2):c.9790A>G (p.Ile3264Val)	rs139500146	0.01121
NM_005529.7(HSPG2):c.5702-5G>A	rs2290498	0.00977
NM_005529.7(HSPG2):c.831C>T (p.Pro277=)	rs41310388	0.00944
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=)	rs145101074	0.00897
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp)	rs114851469	0.00786
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=)	rs2229485	0.00669
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys)	rs2229474	0.00657
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser)	rs143736974	0.00628
NM_005529.7(HSPG2):c.12220C>T (p.Arg4074Cys)	rs140139732	0.00319
NM_005529.7(HSPG2):c.7191G>A (p.Ala2397=)	rs2290499	0.00206
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp)	rs142458572	0.00188
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)	rs116630187	0.00078
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)	rs113652076

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