List of variants in gene COL1A2 reported 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
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000089.4(COL1A2):c.2633C>T (p.Ser878Leu)	rs773819922	0.00001
NM_000089.4(COL1A2):c.4084C>T (p.Pro1362Ser)	rs755358364	0.00001
NM_000089.4(COL1A2):c.1208G>A (p.Gly403Asp)	rs1554396271
NM_000089.4(COL1A2):c.1306G>A (p.Gly436Arg)	rs2115899372
NM_000089.4(COL1A2):c.1378G>A (p.Gly460Ser)	rs72658118
NM_000089.4(COL1A2):c.1470C>A (p.Gly490=)	rs768334731
NM_000089.4(COL1A2):c.1774G>A (p.Gly592Ser)	rs72658141
NM_000089.4(COL1A2):c.1847G>A (p.Gly616Glu)	rs1554397133
NM_000089.4(COL1A2):c.2504G>A (p.Gly835Asp)	rs2115941300
NM_000089.4(COL1A2):c.2675G>T (p.Gly892Val)	rs72659304
NM_000089.4(COL1A2):c.2701G>T (p.Gly901Cys)	rs72659306
NM_000089.4(COL1A2):c.290G>A (p.Gly97Glu)	rs1584315929
NM_000089.4(COL1A2):c.594G>A (p.Lys198=)	rs548276247

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