ClinVar Miner

List of variants in gene COL7A1 studied for Inborn genetic diseases

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Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193 0.00109
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu) rs143221297 0.00061
NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val) rs144825552 0.00044
NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg) rs139622306 0.00043
NM_000094.4(COL7A1):c.5956G>A (p.Glu1986Lys) rs144208360 0.00035
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His) rs146934952 0.00031
NM_000094.4(COL7A1):c.6400C>T (p.Pro2134Ser) rs148638156 0.00031
NM_000094.4(COL7A1):c.4508C>T (p.Ala1503Val) rs150332158 0.00021
NM_000094.4(COL7A1):c.1043G>A (p.Arg348Gln) rs200570283 0.00020
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr) rs143352280 0.00016
NM_000094.4(COL7A1):c.3232C>T (p.Arg1078Cys) rs149154108 0.00011
NM_000094.4(COL7A1):c.6388G>A (p.Asp2130Asn) rs375909549 0.00009
NM_000094.4(COL7A1):c.653C>T (p.Thr218Ile) rs202113569 0.00008
NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser) rs148291967 0.00007
NM_000094.4(COL7A1):c.893G>A (p.Arg298Gln) rs200892831 0.00006
NM_000094.4(COL7A1):c.1345C>T (p.Arg449Trp) rs371991224 0.00005
NM_000094.4(COL7A1):c.5339G>A (p.Arg1780Gln) rs765367177 0.00005
NM_000094.4(COL7A1):c.5465C>T (p.Pro1822Leu) rs781197075 0.00005
NM_000094.4(COL7A1):c.8428G>A (p.Ala2810Thr) rs143995717 0.00005
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys) rs142108058 0.00004
NM_000094.4(COL7A1):c.1777C>T (p.Arg593Trp) rs202239292 0.00004
NM_000094.4(COL7A1):c.2503G>A (p.Glu835Lys) rs748398314 0.00004
NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His) rs558424479 0.00004
NM_000094.4(COL7A1):c.4274T>C (p.Leu1425Pro) rs745975162 0.00004
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln) rs570707807 0.00004
NM_000094.4(COL7A1):c.8473G>A (p.Gly2825Ser) rs139308059 0.00004
NM_000094.4(COL7A1):c.4329G>T (p.Lys1443Asn) rs752495777 0.00003
NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala) rs772457877 0.00003
NM_000094.4(COL7A1):c.2645C>T (p.Ser882Leu) rs372767169 0.00002
NM_000094.4(COL7A1):c.2633G>A (p.Arg878His) rs775718981 0.00001
NM_000094.4(COL7A1):c.3872G>A (p.Ser1291Asn) rs748019757 0.00001
NM_000094.4(COL7A1):c.4223G>A (p.Arg1408Gln) rs576204059 0.00001
NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe) rs575575729 0.00001
NM_000094.4(COL7A1):c.961G>A (p.Gly321Arg) rs772063851 0.00001
NM_000094.4(COL7A1):c.106G>A (p.Ala36Thr)
NM_000094.4(COL7A1):c.1147C>T (p.Arg383Cys)
NM_000094.4(COL7A1):c.1169A>G (p.Asp390Gly)
NM_000094.4(COL7A1):c.1608G>C (p.Gln536His) rs2107786870
NM_000094.4(COL7A1):c.1693G>A (p.Val565Ile)
NM_000094.4(COL7A1):c.1778G>A (p.Arg593Gln)
NM_000094.4(COL7A1):c.1874G>C (p.Ser625Thr)
NM_000094.4(COL7A1):c.1964T>G (p.Leu655Arg)
NM_000094.4(COL7A1):c.208G>A (p.Gly70Arg)
NM_000094.4(COL7A1):c.2190G>C (p.Leu730Phe)
NM_000094.4(COL7A1):c.2333G>A (p.Arg778His)
NM_000094.4(COL7A1):c.2437G>A (p.Glu813Lys)
NM_000094.4(COL7A1):c.2542G>T (p.Val848Phe)
NM_000094.4(COL7A1):c.2627T>G (p.Val876Gly)
NM_000094.4(COL7A1):c.2640G>T (p.Glu880Asp)
NM_000094.4(COL7A1):c.26C>T (p.Ala9Val)
NM_000094.4(COL7A1):c.2780C>T (p.Ala927Val)
NM_000094.4(COL7A1):c.2914G>A (p.Val972Met)
NM_000094.4(COL7A1):c.3035C>T (p.Ser1012Phe)
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His) rs570498790
NM_000094.4(COL7A1):c.3199C>T (p.His1067Tyr)
NM_000094.4(COL7A1):c.3211G>T (p.Ala1071Ser) rs143245957
NM_000094.4(COL7A1):c.3233G>A (p.Arg1078His) rs748471791
NM_000094.4(COL7A1):c.3233G>C (p.Arg1078Pro)
NM_000094.4(COL7A1):c.3289T>A (p.Ser1097Thr)
NM_000094.4(COL7A1):c.3364C>T (p.Arg1122Cys)
NM_000094.4(COL7A1):c.3407C>T (p.Thr1136Ile)
NM_000094.4(COL7A1):c.3529A>G (p.Ile1177Val)
NM_000094.4(COL7A1):c.3633G>C (p.Gln1211His)
NM_000094.4(COL7A1):c.3653A>T (p.Asp1218Val)
NM_000094.4(COL7A1):c.367A>C (p.Ile123Leu)
NM_000094.4(COL7A1):c.3715A>C (p.Thr1239Pro)
NM_000094.4(COL7A1):c.3728G>A (p.Arg1243Gln)
NM_000094.4(COL7A1):c.3818A>C (p.Asp1273Ala)
NM_000094.4(COL7A1):c.3862C>A (p.Pro1288Thr)
NM_000094.4(COL7A1):c.3946C>T (p.Pro1316Ser)
NM_000094.4(COL7A1):c.398C>A (p.Pro133His)
NM_000094.4(COL7A1):c.4001G>A (p.Arg1334His) rs759297874
NM_000094.4(COL7A1):c.4009C>G (p.Pro1337Ala)
NM_000094.4(COL7A1):c.4015G>C (p.Glu1339Gln)
NM_000094.4(COL7A1):c.4021G>A (p.Gly1341Arg)
NM_000094.4(COL7A1):c.4237C>A (p.Pro1413Thr)
NM_000094.4(COL7A1):c.4427T>C (p.Ile1476Thr) rs2044930168
NM_000094.4(COL7A1):c.4516C>T (p.Arg1506Trp)
NM_000094.4(COL7A1):c.4870C>G (p.Pro1624Ala)
NM_000094.4(COL7A1):c.5057G>C (p.Ser1686Thr)
NM_000094.4(COL7A1):c.5114C>T (p.Pro1705Leu)
NM_000094.4(COL7A1):c.515C>T (p.Ala172Val)
NM_000094.4(COL7A1):c.5168A>G (p.Asp1723Gly)
NM_000094.4(COL7A1):c.5225C>G (p.Pro1742Arg)
NM_000094.4(COL7A1):c.5324C>T (p.Pro1775Leu)
NM_000094.4(COL7A1):c.5368G>C (p.Ala1790Pro)
NM_000094.4(COL7A1):c.5471G>T (p.Gly1824Val)
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg) rs121912832
NM_000094.4(COL7A1):c.6030C>A (p.Asp2010Glu)
NM_000094.4(COL7A1):c.6256C>T (p.Pro2086Ser)
NM_000094.4(COL7A1):c.6265C>A (p.Pro2089Thr) rs139920321
NM_000094.4(COL7A1):c.6361A>G (p.Ser2121Gly)
NM_000094.4(COL7A1):c.6433C>T (p.Pro2145Ser)
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.6634A>G (p.Thr2212Ala)
NM_000094.4(COL7A1):c.6724G>C (p.Gly2242Arg) rs121912837
NM_000094.4(COL7A1):c.6819C>A (p.Ser2273Arg)
NM_000094.4(COL7A1):c.7090C>T (p.Pro2364Ser)
NM_000094.4(COL7A1):c.7289C>G (p.Pro2430Arg)
NM_000094.4(COL7A1):c.7449T>A (p.Asp2483Glu)
NM_000094.4(COL7A1):c.7672G>A (p.Asp2558Asn)
NM_000094.4(COL7A1):c.7984-2del rs2043665261
NM_000094.4(COL7A1):c.7991C>T (p.Pro2664Leu)
NM_000094.4(COL7A1):c.8009C>T (p.Ser2670Leu)
NM_000094.4(COL7A1):c.809C>T (p.Thr270Met)
NM_000094.4(COL7A1):c.8383C>T (p.Arg2795Cys)
NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys) rs372166543
NM_000094.4(COL7A1):c.884G>A (p.Arg295Gln)
NM_000094.4(COL7A1):c.901A>G (p.Thr301Ala)

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