ClinVar Miner

List of variants in gene COL7A1 reported as uncertain significance for not provided

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Total variants: 58
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HGVS dbSNP
NM_000094.3(COL7A1):c.1370C>T (p.Pro457Leu) rs200396882
NM_000094.3(COL7A1):c.1613G>A (p.Arg538His) rs138791004
NM_000094.3(COL7A1):c.1970C>G (p.Pro657Arg) rs369972686
NM_000094.3(COL7A1):c.2146A>G (p.Arg716Gly) rs143040168
NM_000094.3(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.3(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392
NM_000094.3(COL7A1):c.5173G>A (p.Gly1725Arg) rs772195825
NM_000094.3(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939
NM_000094.3(COL7A1):c.6180+23A>T rs1553854648
NM_000094.3(COL7A1):c.7048C>T (p.Pro2350Ser) rs749870307
NM_000094.3(COL7A1):c.724G>A (p.Glu242Lys) rs549872555
NM_000094.3(COL7A1):c.7510C>T (p.Arg2504Cys) rs201897441
NM_000094.3(COL7A1):c.8240C>T (p.Pro2747Leu) rs139566877
NM_000094.3(COL7A1):c.8266C>T (p.Pro2756Ser) rs755546809
NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193
NM_000094.3(COL7A1):c.8530C>T (p.Arg2844Trp) rs138002006
NM_000094.3(COL7A1):c.923T>C (p.Ile308Thr) rs145738101
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys)
NM_000094.4(COL7A1):c.1345C>T (p.Arg449Trp)
NM_000094.4(COL7A1):c.1402C>T (p.Arg468Cys)
NM_000094.4(COL7A1):c.1615A>T (p.Ile539Phe)
NM_000094.4(COL7A1):c.1681G>A (p.Asp561Asn)
NM_000094.4(COL7A1):c.1907G>T rs116005007
NM_000094.4(COL7A1):c.2503G>A (p.Glu835Lys)
NM_000094.4(COL7A1):c.2545G>A (p.Gly849Arg)
NM_000094.4(COL7A1):c.2625_2626delinsCT (p.Val876Leu)
NM_000094.4(COL7A1):c.2666C>T (p.Pro889Leu)
NM_000094.4(COL7A1):c.2791C>A (p.Arg931Ser)
NM_000094.4(COL7A1):c.3016C>T (p.Leu1006Phe)
NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser)
NM_000094.4(COL7A1):c.3203G>A (p.Arg1068His)
NM_000094.4(COL7A1):c.3469G>A (p.Val1157Ile)
NM_000094.4(COL7A1):c.3479T>C (p.Val1160Ala)
NM_000094.4(COL7A1):c.3673G>C (p.Ala1225Pro)
NM_000094.4(COL7A1):c.3727C>T (p.Arg1243Trp)
NM_000094.4(COL7A1):c.3932G>C (p.Gly1311Ala)
NM_000094.4(COL7A1):c.4001G>A (p.Arg1334His)
NM_000094.4(COL7A1):c.4210G>A (p.Asp1404Asn)
NM_000094.4(COL7A1):c.4297G>C (p.Gly1433Arg)
NM_000094.4(COL7A1):c.4519-3C>T
NM_000094.4(COL7A1):c.4782+3G>A
NM_000094.4(COL7A1):c.4859G>A (p.Arg1620Gln)
NM_000094.4(COL7A1):c.5096C>T rs121912845
NM_000094.4(COL7A1):c.5459C>G rs143037856
NM_000094.4(COL7A1):c.580TTC[5] (p.Phe197dup)
NM_000094.4(COL7A1):c.631G>A (p.Val211Ile)
NM_000094.4(COL7A1):c.6456G>A (p.Pro2152=)
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
NM_000094.4(COL7A1):c.6497A>G (p.Lys2166Arg)
NM_000094.4(COL7A1):c.6937-10C>A
NM_000094.4(COL7A1):c.7391G>A (p.Gly2464Glu)
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu)
NM_000094.4(COL7A1):c.8000C>T (p.Pro2667Leu)
NM_000094.4(COL7A1):c.8007G>C (p.Gln2669His)
NM_000094.4(COL7A1):c.8177C>T (p.Pro2726Leu)
NM_000094.4(COL7A1):c.8305G>C (p.Gly2769Arg)
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser)
NM_000094.4(COL7A1):c.8635C>T (p.Pro2879Ser)

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