ClinVar Miner

List of variants in gene COL7A1 reported by OMIM

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Gene type:
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Total variants: 45
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HGVS dbSNP
COL7A1, 14-BP DEL, NT33563
COL7A1, 16-BP DEL, NT6863
COL7A1, 5820G-A
COL7A1, IVS3DS, A-G, -2
COL7A1, IVS64DS, G-A, +1
COL7A1, IVS95DS, G-A, -1
NM_000094.3(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.3(COL7A1):c.267-1G>C rs1575495784
NM_000094.3(COL7A1):c.3861del (p.Pro1289fs) rs1575470363
NM_000094.3(COL7A1):c.4039G>C (p.Gly1347Arg) rs121912833
NM_000094.3(COL7A1):c.4119+1G>T rs1575467199
NM_000094.3(COL7A1):c.4120-1G>C rs1299648939
NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) rs121912856
NM_000094.3(COL7A1):c.4556G>A (p.Gly1519Asp) rs121912835
NM_000094.3(COL7A1):c.4565G>A (p.Gly1522Glu) rs387906605
NM_000094.3(COL7A1):c.4783G>C (p.Gly1595Arg) rs121912840
NM_000094.3(COL7A1):c.4888C>T (p.Arg1630Ter) rs121912847
NM_000094.3(COL7A1):c.5443G>A (p.Gly1815Arg) rs121912841
NM_000094.3(COL7A1):c.5819del (p.Pro1940fs) rs1575442301
NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg) rs121912832
NM_000094.3(COL7A1):c.6017G>A (p.Gly2006Asp) rs121912842
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.6110G>A (p.Gly2037Glu) rs121912846
NM_000094.3(COL7A1):c.6118G>A (p.Gly2040Ser) rs121912829
NM_000094.3(COL7A1):c.6218G>T (p.Gly2073Val) rs121912848
NM_000094.3(COL7A1):c.6227G>A (p.Gly2076Asp) rs121912850
NM_000094.3(COL7A1):c.6724G>A (p.Gly2242Arg) rs121912837
NM_000094.3(COL7A1):c.6752G>A (p.Gly2251Glu) rs121912834
NM_000094.3(COL7A1):c.6946G>A (p.Gly2316Arg) rs1575430201
NM_000094.3(COL7A1):c.7411C>T (p.Arg2471Ter) rs121912852
NM_000094.3(COL7A1):c.7787del (p.Gly2596fs) rs759990189
NM_000094.3(COL7A1):c.7867G>T (p.Gly2623Cys) rs121912831
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.8393T>A (p.Met2798Lys) rs121912828
NM_000094.3(COL7A1):c.8479C>T (p.Gln2827Ter) rs387906604
NM_000094.3(COL7A1):c.933C>A (p.Tyr311Ter) rs121912830
NM_000094.4(COL7A1):c.5096C>T rs121912845
NM_000094.4(COL7A1):c.6100G>A rs121912844
NM_000094.4(COL7A1):c.6127G>A rs121912836
NM_000094.4(COL7A1):c.6187C>T rs121912849
NM_000094.4(COL7A1):c.6205C>T rs121912855
NM_000094.4(COL7A1):c.6859G>A rs121912839
NM_000094.4(COL7A1):c.706C>T rs121912854

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