ClinVar Miner

List of variants in gene COL17A1 reported as uncertain significance for not provided

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000494.4(COL17A1):c.*115A>G rs543674750 0.00138
NM_000494.4(COL17A1):c.3206G>A (p.Arg1069Gln) rs147631156 0.00070
NM_000494.4(COL17A1):c.2722C>G (p.Pro908Ala) rs147785714 0.00045
NM_000494.4(COL17A1):c.316C>T (p.Arg106Cys) rs146267259 0.00045
NM_000494.4(COL17A1):c.3118C>T (p.Pro1040Ser) rs148120407 0.00044
NM_000494.4(COL17A1):c.4156+6T>A rs184917605 0.00043
NM_000494.4(COL17A1):c.3868C>T (p.Arg1290Trp) rs150432542 0.00042
NM_000494.4(COL17A1):c.2623C>T (p.Pro875Ser) rs138798317 0.00040
NM_000494.4(COL17A1):c.3739C>T (p.Arg1247Trp) rs144220426 0.00036
NM_000494.4(COL17A1):c.3452C>T (p.Pro1151Leu) rs150968209 0.00028
NM_000494.4(COL17A1):c.4081G>A (p.Gly1361Arg) rs143021968 0.00023
NM_000494.4(COL17A1):c.2011G>A (p.Gly671Ser) rs148601977 0.00016
NM_000494.4(COL17A1):c.3213G>A (p.Ser1071=) rs147011538 0.00013
NM_000494.4(COL17A1):c.4460G>A (p.Arg1487Gln) rs148509618 0.00011
NM_000494.4(COL17A1):c.3190G>A (p.Val1064Ile) rs567623265 0.00010
NM_000494.4(COL17A1):c.3277+3G>C rs757250244 0.00007
NM_000494.4(COL17A1):c.289A>G (p.Thr97Ala) rs139344319 0.00006
NM_000494.4(COL17A1):c.1606G>A (p.Asp536Asn) rs373205740 0.00005
NM_000494.4(COL17A1):c.152G>A (p.Arg51Gln) rs368882418 0.00004
NM_000494.4(COL17A1):c.530G>A (p.Arg177Gln) rs202160225 0.00004
NM_000494.4(COL17A1):c.1142-3T>C rs757602201 0.00002
NM_000494.4(COL17A1):c.1369C>G (p.Pro457Ala) rs781186018 0.00002
NM_000494.4(COL17A1):c.2483C>T (p.Ala828Val) rs1012649359 0.00002
NM_000494.4(COL17A1):c.3247T>C (p.Ser1083Pro) rs549342922 0.00002
NM_000494.4(COL17A1):c.3580T>C (p.Ser1194Pro) rs139697030 0.00002
NM_000494.4(COL17A1):c.602A>G (p.Gln201Arg) rs757255510 0.00002
NM_000494.4(COL17A1):c.946G>T (p.Ala316Ser) rs974103482 0.00002
NM_000494.4(COL17A1):c.1222+4A>G rs1026862210 0.00001
NM_000494.4(COL17A1):c.2648-3T>C rs1373384692 0.00001
NM_000494.4(COL17A1):c.2992C>G (p.Pro998Ala) rs1217077345 0.00001
NM_000494.4(COL17A1):c.3650C>T (p.Pro1217Leu) rs983628732 0.00001
NM_000494.4(COL17A1):c.3806C>G (p.Pro1269Arg) rs1404349222 0.00001
NM_000494.4(COL17A1):c.4000A>G (p.Arg1334Gly) rs752126233 0.00001
NM_000494.4(COL17A1):c.584T>C (p.Ile195Thr) rs886046690 0.00001
NM_000494.4(COL17A1):c.1127C>G (p.Ala376Gly)
NM_000494.4(COL17A1):c.1330G>A (p.Ala444Thr)
NM_000494.4(COL17A1):c.1339G>T (p.Gly447Cys) rs200223042
NM_000494.4(COL17A1):c.1399T>A (p.Trp467Arg) rs2493344539
NM_000494.4(COL17A1):c.1589C>T (p.Ala530Val) rs200164044
NM_000494.4(COL17A1):c.1669ATG[1] (p.Met558del)
NM_000494.4(COL17A1):c.1910C>A (p.Pro637His) rs763247251
NM_000494.4(COL17A1):c.2039-108G>A rs558878814
NM_000494.4(COL17A1):c.2209G>A (p.Gly737Arg) rs764552135
NM_000494.4(COL17A1):c.2335+14A>T rs997189110
NM_000494.4(COL17A1):c.233C>G (p.Ser78Cys)
NM_000494.4(COL17A1):c.2399-9T>A rs201095550
NM_000494.4(COL17A1):c.2494C>G (p.Pro832Ala)
NM_000494.4(COL17A1):c.2716G>A (p.Gly906Ser)
NM_000494.4(COL17A1):c.2873C>T (p.Pro958Leu)
NM_000494.4(COL17A1):c.289A>T (p.Thr97Ser) rs139344319
NM_000494.4(COL17A1):c.2903_2904inv (p.Pro968Leu)
NM_000494.4(COL17A1):c.2991CCCTGGGCC[1] (p.994PPG[3]) rs753169679
NM_000494.4(COL17A1):c.2993C>A (p.Pro998His) rs771191466
NM_000494.4(COL17A1):c.3070+3G>A
NM_000494.4(COL17A1):c.3097G>A (p.Gly1033Arg)
NM_000494.4(COL17A1):c.3359G>A (p.Gly1120Glu) rs2493286101
NM_000494.4(COL17A1):c.3400A>G (p.Ile1134Val) rs1272442439
NM_000494.4(COL17A1):c.4024G>A (p.Gly1342Ser)
NM_000494.4(COL17A1):c.4470AAG[1] (p.Arg1491del)
NM_000494.4(COL17A1):c.723G>C (p.Gln241His)
NM_000494.4(COL17A1):c.825C>G (p.Ser275Arg)
NM_000494.4(COL17A1):c.932T>G (p.Met311Arg) rs2493355938

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