List of variants in gene combination COL5A1, LOC101448202 reported as 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4474G>T (p.Gly1492Cys)	rs863223458
NM_000093.5(COL5A1):c.4638del (p.Ser1547fs)	rs1839084305
NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs)	rs1131691996
NM_000093.5(COL5A1):c.5031dup (p.Ser1678fs)	rs2132887747
NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs)	rs863223475
NM_000093.5(COL5A1):c.5458_5459del (p.Phe1820fs)	rs1564191682

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