ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic for Recessive dystrophic epidermolysis bullosa

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Total variants: 38
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HGVS dbSNP
COL7A1, 14-BP DEL, NT33563
NC_000003.12:g.48589471del rs1336602322
NM_000094.3(COL7A1):c.1319del (p.Glu440fs) rs1559435706
NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803
NM_000094.3(COL7A1):c.1A>G (p.Met1Val) rs1064797078
NM_000094.3(COL7A1):c.2005C>T (p.Arg669Ter) rs780261665
NM_000094.3(COL7A1):c.2318_2321dup (p.Glu774delinsAspTer) rs1064797079
NM_000094.3(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.3(COL7A1):c.2989C>T (p.Gln997Ter) rs1559423385
NM_000094.3(COL7A1):c.3376_3386del (p.Tyr1126fs) rs765699235
NM_000094.3(COL7A1):c.3861del (p.Pro1289fs) rs1575470363
NM_000094.3(COL7A1):c.4119+1G>T rs1575467199
NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) rs121912856
NM_000094.3(COL7A1):c.4448G>A (p.Gly1483Asp) rs756217590
NM_000094.3(COL7A1):c.4783G>C (p.Gly1595Arg) rs121912840
NM_000094.3(COL7A1):c.4871del (p.Pro1624fs) rs1064797082
NM_000094.3(COL7A1):c.4894C>T (p.Arg1632Ter) rs751535193
NM_000094.3(COL7A1):c.5443G>A (p.Gly1815Arg) rs121912841
NM_000094.3(COL7A1):c.5532+1G>A rs767182886
NM_000094.3(COL7A1):c.5819del (p.Pro1940fs) rs1575442301
NM_000094.3(COL7A1):c.5924_5927del (p.Glu1975fs) rs1064797080
NM_000094.3(COL7A1):c.6044G>A (p.Gly2015Glu) rs121912843
NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838
NM_000094.3(COL7A1):c.657del (p.Gly220fs) rs1575494051
NM_000094.3(COL7A1):c.7411C>T (p.Arg2471Ter) rs121912852
NM_000094.3(COL7A1):c.7957G>A (p.Gly2653Arg) rs121912851
NM_000094.3(COL7A1):c.8245G>A (p.Gly2749Arg) rs121912853
NM_000094.3(COL7A1):c.8278G>A (p.Gly2760Arg) rs1064797081
NM_000094.3(COL7A1):c.8393T>A (p.Met2798Lys) rs121912828
NM_000094.3(COL7A1):c.933C>A (p.Tyr311Ter) rs121912830
NM_000094.4(COL7A1):c.1573C>T rs368007918
NM_000094.4(COL7A1):c.553C>T rs886041186
NM_000094.4(COL7A1):c.6022C>T rs1055680335
NM_000094.4(COL7A1):c.6187C>T rs121912849
NM_000094.4(COL7A1):c.6527dupC rs768128088
NM_000094.4(COL7A1):c.6859G>A rs121912839
NM_000094.4(COL7A1):c.706C>T rs121912854
NM_000094.4(COL7A1):c.84A>G rs1559444716

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