ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4466G>A (p.Gly1489Glu)	rs121912932
NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser)	rs80338764
NM_000093.5(COL5A1):c.5137-11T>A	rs183495554
NM_000093.5(COL5A1):c.5370+3_5370+6del	rs786200923

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