ClinVar Miner

List of variants in gene COL7A1 reported as uncertain significance for Epidermolysis bullosa dystrophica inversa, autosomal recessive

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Total variants: 146
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HGVS dbSNP
NM_000094.3(COL7A1):c.2392G>A (p.Gly798Arg) rs202237834
NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193
NM_000094.4(COL7A1):c.1167G>A (p.Thr389=)
NM_000094.4(COL7A1):c.1186A>T (p.Ser396Cys)
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=)
NM_000094.4(COL7A1):c.1241-4G>A
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys)
NM_000094.4(COL7A1):c.1403G>A (p.Arg468His)
NM_000094.4(COL7A1):c.1428G>A (p.Pro476=)
NM_000094.4(COL7A1):c.1495G>A rs201877942
NM_000094.4(COL7A1):c.1532T>C (p.Val511Ala)
NM_000094.4(COL7A1):c.1561G>A (p.Gly521Arg)
NM_000094.4(COL7A1):c.1604C>A (p.Thr535Asn)
NM_000094.4(COL7A1):c.1717G>C (p.Val573Leu)
NM_000094.4(COL7A1):c.1720C>T (p.Arg574Trp)
NM_000094.4(COL7A1):c.1910C>T (p.Pro637Leu)
NM_000094.4(COL7A1):c.1936G>C (p.Asp646His)
NM_000094.4(COL7A1):c.2064A>G (p.Pro688=)
NM_000094.4(COL7A1):c.2100A>C rs756201098
NM_000094.4(COL7A1):c.215C>A (p.Ala72Asp)
NM_000094.4(COL7A1):c.2169C>T (p.His723=)
NM_000094.4(COL7A1):c.2178G>T (p.Glu726Asp)
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)
NM_000094.4(COL7A1):c.2249C>T (p.Thr750Met)
NM_000094.4(COL7A1):c.2315-3C>T
NM_000094.4(COL7A1):c.2382C>T (p.Ile794=)
NM_000094.4(COL7A1):c.2445C>G (p.Gly815=)
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn)
NM_000094.4(COL7A1):c.2557G>A (p.Gly853Ser)
NM_000094.4(COL7A1):c.2587C>T (p.Pro863Ser)
NM_000094.4(COL7A1):c.2729G>T (p.Arg910Leu)
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)
NM_000094.4(COL7A1):c.2769G>A (p.Gly923=)
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His)
NM_000094.4(COL7A1):c.2793C>T (p.Arg931=)
NM_000094.4(COL7A1):c.279C>T (p.Gly93=)
NM_000094.4(COL7A1):c.2852G>A (p.Arg951His)
NM_000094.4(COL7A1):c.2968C>T (p.Arg990Trp)
NM_000094.4(COL7A1):c.302G>T (p.Gly101Val)
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His)
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile)
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met)
NM_000094.4(COL7A1):c.3107G>A (p.Arg1036Gln)
NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser)
NM_000094.4(COL7A1):c.3158C>T (p.Ala1053Val)
NM_000094.4(COL7A1):c.317C>T (p.Ala106Val)
NM_000094.4(COL7A1):c.3211G>A (p.Ala1071Thr)
NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=)
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val)
NM_000094.4(COL7A1):c.3724-6C>T
NM_000094.4(COL7A1):c.3731C>T (p.Pro1244Leu)
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=)
NM_000094.4(COL7A1):c.3826C>T (p.Leu1276Phe)
NM_000094.4(COL7A1):c.3831+3G>A
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=)
NM_000094.4(COL7A1):c.3888C>T (p.Gly1296=)
NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His)
NM_000094.4(COL7A1):c.3929C>T (p.Pro1310Leu)
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=)
NM_000094.4(COL7A1):c.4012-9C>T
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser)
NM_000094.4(COL7A1):c.4069G>A (p.Gly1357Arg)
NM_000094.4(COL7A1):c.4135C>T (p.Arg1379Cys)
NM_000094.4(COL7A1):c.4162C>T (p.Arg1388Cys)
NM_000094.4(COL7A1):c.4214G>A (p.Arg1405His)
NM_000094.4(COL7A1):c.4278G>A (p.Pro1426=)
NM_000094.4(COL7A1):c.4287C>T rs749814590
NM_000094.4(COL7A1):c.4391C>T (p.Pro1464Leu)
NM_000094.4(COL7A1):c.4408C>T (p.Arg1470Trp)
NM_000094.4(COL7A1):c.447C>T (p.Asp149=)
NM_000094.4(COL7A1):c.4508C>T (p.Ala1503Val)
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys)
NM_000094.4(COL7A1):c.4635+10G>A
NM_000094.4(COL7A1):c.4636-3C>T
NM_000094.4(COL7A1):c.4636-9T>C rs760840151
NM_000094.4(COL7A1):c.4636G>C (p.Gly1546Arg)
NM_000094.4(COL7A1):c.4666A>G (p.Lys1556Glu)
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
NM_000094.4(COL7A1):c.477T>C (p.Ala159=)
NM_000094.4(COL7A1):c.4780C>T
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp)
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr)
NM_000094.4(COL7A1):c.4996C>T (p.Arg1666Trp)
NM_000094.4(COL7A1):c.4997G>A (p.Arg1666Gln)
NM_000094.4(COL7A1):c.5271+6T>C
NM_000094.4(COL7A1):c.5350G>C (p.Asp1784His)
NM_000094.4(COL7A1):c.5352T>C (p.Asp1784=)
NM_000094.4(COL7A1):c.5387A>G (p.Asn1796Ser)
NM_000094.4(COL7A1):c.5425-6_5425-5delTT rs762085901
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His)
NM_000094.4(COL7A1):c.5459C>G rs143037856
NM_000094.4(COL7A1):c.5465C>T (p.Pro1822Leu)
NM_000094.4(COL7A1):c.5532+8T>C
NM_000094.4(COL7A1):c.5559C>T (p.Asp1853=)
NM_000094.4(COL7A1):c.5626G>C (p.Glu1876Gln)
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=)
NM_000094.4(COL7A1):c.5701-10C>T
NM_000094.4(COL7A1):c.5736+9G>A rs777097228
NM_000094.4(COL7A1):c.5798G>A (p.Arg1933Gln)
NM_000094.4(COL7A1):c.580TTC[5] (p.Phe197dup)
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=)
NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys)
NM_000094.4(COL7A1):c.6021C>A (p.Asp2007Glu)
NM_000094.4(COL7A1):c.6045G>A (p.Gly2015=)
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=)
NM_000094.4(COL7A1):c.611T>C (p.Leu204Ser)
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu)
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=)
NM_000094.4(COL7A1):c.6270T>A (p.Pro2090=)
NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=)
NM_000094.4(COL7A1):c.6293A>C rs886058635
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala)
NM_000094.4(COL7A1):c.642A>T (p.Arg214Ser)
NM_000094.4(COL7A1):c.6447C>T (p.Asp2149=)
NM_000094.4(COL7A1):c.6457-3C>T
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu)
NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala)
NM_000094.4(COL7A1):c.6884C>T (p.Thr2295Met)
NM_000094.4(COL7A1):c.6943C>G (p.Pro2315Ala)
NM_000094.4(COL7A1):c.6954T>C (p.Leu2318=)
NM_000094.4(COL7A1):c.6977C>A (p.Pro2326Gln)
NM_000094.4(COL7A1):c.7036C>T (p.Arg2346Cys)
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)
NM_000094.4(COL7A1):c.7215C>T (p.Phe2405=)
NM_000094.4(COL7A1):c.7217C>T (p.Pro2406Leu)
NM_000094.4(COL7A1):c.7334C>T (p.Pro2445Leu)
NM_000094.4(COL7A1):c.7412G>A (p.Arg2471Gln)
NM_000094.4(COL7A1):c.7417G>A rs199819125
NM_000094.4(COL7A1):c.7485+6del
NM_000094.4(COL7A1):c.7595G>A (p.Arg2532Gln)
NM_000094.4(COL7A1):c.7763A>C (p.Gln2588Pro)
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu)
NM_000094.4(COL7A1):c.8007G>C (p.Gln2669His)
NM_000094.4(COL7A1):c.8094C>A (p.Gly2698=)
NM_000094.4(COL7A1):c.8216A>C (p.Gln2739Pro)
NM_000094.4(COL7A1):c.8234G>A rs377182638
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=)
NM_000094.4(COL7A1):c.831G>A (p.Pro277=)
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=)
NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=)
NM_000094.4(COL7A1):c.8539C>G (p.Pro2847Ala)
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile)
NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)
NM_000094.4(COL7A1):c.8800G>T (p.Val2934Phe)
NM_000094.4(COL7A1):c.8817A>G (p.Thr2939=)

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