List of variants in gene HSPG2 reported as likely pathogenic for autosomal recessive disease

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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_005529.7(HSPG2):c.12353C>T (p.Thr4118Met)	rs200150908	0.00006
NM_005529.7(HSPG2):c.4955+3A>T	rs769130391	0.00003
NM_005529.7(HSPG2):c.5273G>A (p.Arg1758Gln)	rs2229483	0.00002
NM_005529.7(HSPG2):c.1030T>C (p.Cys344Arg)
NM_005529.7(HSPG2):c.11208-7G>A	rs1336552092
NM_005529.7(HSPG2):c.1125C>G (p.Cys375Trp)	rs543805444
NM_005529.7(HSPG2):c.11730C>A (p.Cys3910Ter)	rs1215934207
NM_005529.7(HSPG2):c.1219del (p.Gln407fs)
NM_005529.7(HSPG2):c.1654+5G>A	rs1572356343
NM_005529.7(HSPG2):c.4740+5G>A	rs886039909
NM_005529.7(HSPG2):c.4955+1G>C	rs139944523
NM_005529.7(HSPG2):c.5296G>A (p.Ala1766Thr)
NM_005529.7(HSPG2):c.9958T>C (p.Cys3320Arg)	rs2098038156
NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)	rs1294413650

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