List of variants in gene combination COL5A1, LOC101448202 reported by AiLife Diagnostics, AiLife Diagnostics

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4937A>G (p.His1646Arg)	rs1273195387	0.00001
NM_000093.5(COL5A1):c.5393C>T (p.Thr1798Met)	rs761036527	0.00001
NM_000093.5(COL5A1):c.5492T>C (p.Val1831Ala)	rs532411382	0.00001
NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His)	rs1378626783
NM_000093.5(COL5A1):c.4685C>G (p.Pro1562Arg)	rs772020996
NM_000093.5(COL5A1):c.5026G>A (p.Gly1676Arg)	rs368448060

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