List of variants in gene combination COL5A1, LOC101448202 reported as not provided for Ehlers-Danlos syndrome, classic type

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4508G>A (p.Arg1503His)	rs373653069	0.00002
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly)	rs746071518	0.00001
NM_000093.5(COL5A1):c.4887G>A (p.Leu1629=)	rs1588598230
NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser)	rs80338764

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