ClinVar Miner

List of variants in gene COL17A1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 51
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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.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.1267+13C>T rs11191910 0.13838
NM_000494.4(COL17A1):c.10A>G (p.Thr4Ala) rs17116471 0.00936
NM_000494.4(COL17A1):c.3633A>G (p.Ser1211=) rs140197646 0.00443
NM_000494.4(COL17A1):c.1336G>A (p.Gly446Ser) rs149983875 0.00383
NM_000494.4(COL17A1):c.1307G>A (p.Gly436Glu) rs61731082 0.00366
NM_000494.4(COL17A1):c.2361G>C (p.Gln787His) rs73329731 0.00266
NM_000494.4(COL17A1):c.4304C>T (p.Ala1435Val) rs146841330 0.00265
NM_000494.4(COL17A1):c.1687+6A>G rs75841535 0.00229
NM_000494.4(COL17A1):c.2335+3A>G rs114340599 0.00193
NM_000494.4(COL17A1):c.*8A>G rs149754696 0.00158
NM_000494.4(COL17A1):c.696G>T (p.Gly232=) rs139924779 0.00097
NM_000494.4(COL17A1):c.3206G>A (p.Arg1069Gln) rs147631156 0.00070
NM_000494.4(COL17A1):c.2971G>A (p.Val991Met) rs138824013 0.00068
NM_000494.4(COL17A1):c.3739C>T (p.Arg1247Trp) rs144220426 0.00036
NM_000494.4(COL17A1):c.2208C>T (p.Pro736=) rs139559170 0.00031
NM_000494.4(COL17A1):c.2704A>T (p.Thr902Ser) rs117837187 0.00029
NM_000494.4(COL17A1):c.4296T>C (p.Thr1432=) rs571566750 0.00026
NM_000494.4(COL17A1):c.93A>G (p.Pro31=) rs141808001 0.00013
NM_000494.4(COL17A1):c.1557A>C (p.Ile519=) rs780065996 0.00002
NM_000494.4(COL17A1):c.*5G>C
NM_000494.4(COL17A1):c.1303_1329del (p.Ser435_Gly443del) rs566545663
NM_000494.4(COL17A1):c.1338C>T (p.Gly446=)
NM_000494.4(COL17A1):c.1592C>T (p.Ala531Val)
NM_000494.4(COL17A1):c.180C>T (p.Gly60=)
NM_000494.4(COL17A1):c.2081del (p.Pro694fs)
NM_000494.4(COL17A1):c.2400T>A (p.Gly800=)
NM_000494.4(COL17A1):c.2702-4G>T
NM_000494.4(COL17A1):c.289A>G (p.Thr97Ala)
NM_000494.4(COL17A1):c.2982G>A (p.Pro994=)
NM_000494.4(COL17A1):c.324G>A (p.Ala108=) rs61731085
NM_000494.4(COL17A1):c.3613_3616del (p.Leu1205fs)
NM_000494.4(COL17A1):c.3766+1G>A rs2086256572
NM_000494.4(COL17A1):c.4145_4148del (p.Glu1382fs) rs765243124
NM_000494.4(COL17A1):c.4156+6T>A
NM_000494.4(COL17A1):c.4201C>A (p.Pro1401Thr)
NM_000494.4(COL17A1):c.622G>A (p.Asp208Asn)
NM_000494.4(COL17A1):c.910+10C>G
NM_000494.4(COL17A1):c.948G>A (p.Ala316=)
NM_000494.4(COL17A1):c.990A>G (p.Thr330=) rs142852551

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