ClinVar Miner

List of variants in gene COL17A1 studied for corneal disorder

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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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.979+27T>A rs805704

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