List of variants in gene COL1A2 reported as pathogenic by Athena Diagnostics 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000089.4(COL1A2):c.389G>A (p.Gly130Asp)	rs72656360	0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)	rs72656387	0.00001
NM_000089.4(COL1A2):c.1081_1090-55del	rs1554396162
NM_000089.4(COL1A2):c.1153G>A (p.Gly385Arg)	rs1584319922
NM_000089.4(COL1A2):c.1666G>A (p.Gly556Ser)	rs1554396832
NM_000089.4(COL1A2):c.1991G>T (p.Gly664Val)	rs72658154
NM_000089.4(COL1A2):c.2296G>A (p.Gly766Ser)	rs72658182
NM_000089.4(COL1A2):c.2332G>A (p.Gly778Ser)	rs72658186
NM_000089.4(COL1A2):c.2405G>C (p.Gly802Ala)	rs1562906013
NM_000089.4(COL1A2):c.2450G>A (p.Gly817Glu)
NM_000089.4(COL1A2):c.2503G>A (p.Gly835Ser)	rs72658193
NM_000089.4(COL1A2):c.3304G>A (p.Gly1102Ser)	rs67768540
NM_000089.4(COL1A2):c.371G>A (p.Gly124Asp)	rs72656359
NM_000089.4(COL1A2):c.389G>T (p.Gly130Val)	rs72656360
NM_000089.4(COL1A2):c.604G>C (p.Gly202Arg)
NM_000089.4(COL1A2):c.956G>A (p.Gly319Glu)	rs1554396083

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