List of variants in gene HSPG2 reported as likely pathogenic for not provided

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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: 19

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HGVS	dbSNP	gnomAD frequency
NM_005529.7(HSPG2):c.5014+1G>A	rs1446227002	0.00001
NM_005529.7(HSPG2):c.8017C>T (p.Arg2673Ter)	rs745338204	0.00001
NM_005529.7(HSPG2):c.8316+1G>A	rs927473035	0.00001
NM_005529.7(HSPG2):c.1219dup (p.Gln407fs)	rs763945561
NM_005529.7(HSPG2):c.12503del (p.Pro4168fs)	rs2152688478
NM_005529.7(HSPG2):c.1507+1G>A
NM_005529.7(HSPG2):c.1654+15G>A	rs886046043
NM_005529.7(HSPG2):c.1788G>A (p.Trp596Ter)	rs1064795546
NM_005529.7(HSPG2):c.1819-1G>A	rs868479224
NM_005529.7(HSPG2):c.2686-2A>G	rs2152749480
NM_005529.7(HSPG2):c.2799dup (p.Thr934fs)	rs2152749368
NM_005529.7(HSPG2):c.3183+1G>T
NM_005529.7(HSPG2):c.3892C>T (p.Gln1298Ter)
NM_005529.7(HSPG2):c.4869-2A>G	rs2152731940
NM_005529.7(HSPG2):c.7006+1G>A	rs778653296
NM_005529.7(HSPG2):c.7158+2T>C
NM_005529.7(HSPG2):c.7874-1G>T
NM_005529.7(HSPG2):c.8316+1G>T
NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)	rs1294413650

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