List of variants in gene COL5A1 reported by Baylor Genetics

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val)	rs781756159	0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)	rs777625241	0.00001
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NM_000093.5(COL5A1):c.1937_1946del	rs2132717812
NM_000093.5(COL5A1):c.3007-14G>A	rs1838163235
NM_000093.5(COL5A1):c.3196G>A (p.Gly1066Ser)	rs1838247641
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg)	rs1838467288
NM_000093.5(COL5A1):c.3762del (p.Gly1255fs)	rs1057518653

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