List of variants in gene COL17A1 studied for corneal disorder

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: 29

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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	0.84905
NM_000494.4(COL17A1):c.2107A>G (p.Met703Val)	rs805722	0.72600
NM_000494.4(COL17A1):c.3278-9C>G	rs2274098	0.72589
NM_000494.4(COL17A1):c.2904A>G (p.Pro968=)	rs2274100	0.72299
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.2883C>A (p.Pro961=)	rs2296219	0.71801
NM_000494.4(COL17A1):c.629C>T (p.Thr210Met)	rs805708	0.59454
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.1336G>A (p.Gly446Ser)	rs149983875	0.00383
NM_000494.4(COL17A1):c.3739C>T (p.Arg1247Trp)	rs144220426	0.00036
NM_000494.4(COL17A1):c.4081G>A (p.Gly1361Arg)	rs143021968	0.00023
NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln)	rs121912771	0.00015
NM_000494.4(COL17A1):c.2062C>T (p.Arg688Ter)	rs768415627	0.00001
NM_000494.4(COL17A1):c.3156C>T (p.Gly1052=)	rs760714959	0.00001
NM_000494.4(COL17A1):c.3419-10A>T	rs1448663798	0.00001
NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter)	rs1564685400	0.00001
NM_000494.4(COL17A1):c.2002+2T>G	rs1274167395
NM_000494.4(COL17A1):c.2011G>A (p.Gly671Ser)
NM_000494.4(COL17A1):c.2816C>T (p.Thr939Ile)	rs797045142
NM_000494.4(COL17A1):c.2897-2A>C
NM_000494.4(COL17A1):c.3071-5G>A	rs370589324
NM_000494.4(COL17A1):c.4142C>T (p.Ser1381Leu)	rs2086242885
NM_000494.4(COL17A1):c.4145_4148del (p.Glu1382fs)	rs765243124
NM_000494.4(COL17A1):c.979+27T>A	rs805704

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