List of variants in gene COL3A1 reported as uncertain significance by Blueprint Genetics

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)	rs111840783	0.00083
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)	rs142085247	0.00080
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln)	rs730880062	0.00004
NM_000090.4(COL3A1):c.1869+6T>G	rs730880063	0.00001
NM_000090.4(COL3A1):c.1509G>A (p.Lys503=)	rs1576465649
NM_000090.4(COL3A1):c.2993A>T (p.Gln998Leu)	rs139859476
NM_000090.4(COL3A1):c.3755A>T (p.Asp1252Val)	rs869025372
NM_000090.4(COL3A1):c.3824-8C>T	rs1576474022
NM_000090.4(COL3A1):c.879T>A (p.Asn293Lys)	rs1576463837

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