List of variants in gene COL5A2 reported as uncertain significance by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp)	rs146789395	0.00119
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)	rs145404046	0.00037
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)	rs150260969	0.00029
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn)	rs199802059	0.00007
NM_000393.5(COL5A2):c.3201+14C>T	rs368713290	0.00005
NM_000393.5(COL5A2):c.1717-3C>T	rs760304144	0.00002
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys)	rs730880066	0.00001
NM_000393.5(COL5A2):c.2308G>T (p.Ala770Ser)	rs1244308550	0.00001
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr)	rs752658223	0.00001
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg)	rs149203102
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn)	rs754751410
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu)	rs867460091

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