List of variants in gene combination COL5A1, LOC101448202 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu)	rs147398633	0.00011
NM_000093.5(COL5A1):c.5097C>G (p.Asn1699Lys)	rs138396959	0.00009
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys)	rs199703883	0.00005
NM_000093.5(COL5A1):c.4818C>T (p.Asp1606=)	rs190912679	0.00004
NM_000093.5(COL5A1):c.5125C>T (p.Arg1709Cys)	rs375586129	0.00001
NM_000093.5(COL5A1):c.5452A>G (p.Asn1818Asp)	rs1251114548	0.00001
NM_000093.5(COL5A1):c.4555-8C>G	rs1393610396
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn)	rs1588615451
NM_000093.5(COL5A1):c.5512G>A (p.Gly1838Ser)	rs1830130130

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