List of variants in gene COL9A3 reported as pathogenic for hereditary disorder of connective tissue

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001853.4(COL9A3):c.148-1G>A	rs606231367
NM_001853.4(COL9A3):c.148-2A>G
NM_001853.4(COL9A3):c.148-2A>T	rs1600786629
NM_001853.4(COL9A3):c.183+2T>C	rs2147195552
NM_001853.4(COL9A3):c.183+5G>A	rs1600786748
NM_001853.4(COL9A3):c.369+2T>C	rs1057518693

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