List of variants in gene COL17A1 reported as benign for epithelial recurrent erosion dystrophy

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000494.4(COL17A1):c.3261T>C (p.Ile1087=)	rs2476958	0.98672
NM_000494.4(COL17A1):c.1465+48A>G	rs805696	0.92652
NM_000494.4(COL17A1):c.1282G>A (p.Gly428Ser)	rs805698	0.85547
NM_000494.4(COL17A1):c.3278-9C>G	rs2274098	0.72862
NM_000494.4(COL17A1):c.2107A>G (p.Met703Val)	rs805722	0.72600
NM_000494.4(COL17A1):c.2904A>G (p.Pro968=)	rs2274100	0.72299
NM_000494.4(COL17A1):c.2883C>A (p.Pro961=)	rs2296219	0.72098
NM_000494.4(COL17A1):c.2595C>T (p.Arg865=)	rs4918079	0.71960
NM_000494.4(COL17A1):c.3208+16C>T	rs2282437	0.71950
NM_000494.4(COL17A1):c.629C>T (p.Thr210Met)	rs805708	0.59861
NM_000494.4(COL17A1):c.1062C>T (p.Ala354=)	rs805701	0.56681
NM_000494.4(COL17A1):c.2398+19G>A	rs813944	0.43385
NM_000494.4(COL17A1):c.4109A>G (p.Asp1370Gly)	rs17116350	0.28157
NM_000494.4(COL17A1):c.979+27T>A	rs805704

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