ClinVar Miner

List of variants reported as likely benign for Epidermolysis bullosa dystrophica inversa, autosomal recessive

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.5769G>A (p.Glu1923=) rs143843471 0.00046
NM_000094.4(COL7A1):c.2544C>T (p.Val848=) rs139545952 0.00041
NM_000094.4(COL7A1):c.2106C>T (p.Val702=) rs75551775 0.00039
NM_000094.4(COL7A1):c.4992A>C (p.Gly1664=) rs139988431 0.00036
NM_000094.4(COL7A1):c.2600C>T (p.Pro867Leu) rs191043504 0.00034
NM_000094.4(COL7A1):c.8541T>C (p.Pro2847=) rs79473918 0.00034
NM_000094.4(COL7A1):c.6936+8T>C rs374882140 0.00030
NM_000094.4(COL7A1):c.7825A>G (p.Ile2609Val) rs201839881 0.00029
NM_000094.4(COL7A1):c.3277-7A>G rs376192100 0.00025
NM_000094.4(COL7A1):c.1857A>G (p.Gly619=) rs145812249 0.00024
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu) rs145068043 0.00020
NM_000094.4(COL7A1):c.7758+10G>A rs371927547 0.00019
NM_000094.4(COL7A1):c.3816C>T (p.Gly1272=) rs138190232 0.00015
NM_000094.4(COL7A1):c.6312T>G (p.Ser2104=) rs142907473 0.00015
NM_000094.4(COL7A1):c.3840C>T (p.Thr1280=) rs369839378 0.00014
NM_000094.4(COL7A1):c.945C>T (p.Ile315=) rs761431565 0.00011
NM_000094.4(COL7A1):c.6500C>T (p.Pro2167Leu) rs200473808 0.00010
NM_000094.4(COL7A1):c.1242C>T (p.Asp414=) rs373138319 0.00008
NM_000094.4(COL7A1):c.3937G>A (p.Ala1313Thr) rs778191454 0.00008
NM_000094.4(COL7A1):c.3612G>A (p.Ala1204=) rs762604188 0.00006
NM_000094.4(COL7A1):c.761C>T (p.Ala254Val) rs201916805 0.00006
NM_000094.4(COL7A1):c.8064C>T (p.Asp2688=) rs546054756 0.00006
NM_000094.4(COL7A1):c.8322C>T (p.Ala2774=) rs142948995 0.00006
NM_000094.4(COL7A1):c.8819-3C>T rs148536949 0.00006
NM_000094.4(COL7A1):c.6188G>A (p.Arg2063Gln) rs2229825 0.00003
NM_000094.4(COL7A1):c.8205C>T (p.Pro2735=) rs535006469 0.00002
NM_000094.4(COL7A1):c.3136C>A (p.Pro1046Thr) rs374283870 0.00001
NM_000094.4(COL7A1):c.3893G>A (p.Arg1298Lys) rs530442803 0.00001
NM_000094.4(COL7A1):c.573C>G (p.Thr191=) rs776540069 0.00001
NM_000094.4(COL7A1):c.6280-8G>A rs1343979395 0.00001
NM_000094.4(COL7A1):c.2553C>A (p.Arg851=) rs577279100
NM_000094.4(COL7A1):c.2634C>T (p.Arg878=) rs201412774
NM_000094.4(COL7A1):c.5058C>T (p.Ser1686=) rs144700737
NM_000094.4(COL7A1):c.7080G>A (p.Gly2360=) rs768904830
NM_000094.4(COL7A1):c.7191C>T (p.Pro2397=) rs34360255

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