ClinVar Miner

List of variants in gene COL7A1 reported as benign by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000094.3(COL7A1):c.*65T>C rs74780677
NM_000094.3(COL7A1):c.1628G>A (p.Ser543Asn) rs76410546
NM_000094.3(COL7A1):c.1784C>T (p.Pro595Leu) rs2228561
NM_000094.3(COL7A1):c.2242G>A (p.Glu748Lys) rs148411473
NM_000094.3(COL7A1):c.2314+15G>A rs144483183
NM_000094.3(COL7A1):c.2817A>G (p.Pro939=) rs1264194
NM_000094.3(COL7A1):c.3139+12G>A rs2255532
NM_000094.3(COL7A1):c.3830C>T (p.Pro1277Leu) rs35761247
NM_000094.3(COL7A1):c.3975+11C>T rs7637885
NM_000094.3(COL7A1):c.4118C>T (p.Ser1373Leu) rs140403507
NM_000094.3(COL7A1):c.4483-11T>C rs74390291
NM_000094.3(COL7A1):c.4613G>A (p.Arg1538His) rs2229824
NM_000094.3(COL7A1):c.4722+11C>T rs145729790
NM_000094.3(COL7A1):c.5307+7G>C rs116455408
NM_000094.3(COL7A1):c.5590G>A (p.Ala1864Thr) rs17080261
NM_000094.3(COL7A1):c.5910C>T (p.Phe1970=) rs141290741
NM_000094.3(COL7A1):c.6217-6C>T rs191559835
NM_000094.3(COL7A1):c.6654C>G (p.Gly2218=) rs151111203
NM_000094.3(COL7A1):c.6696C>A (p.Pro2232=) rs61729223
NM_000094.3(COL7A1):c.7286C>T (p.Pro2429Leu) rs2229822
NM_000094.3(COL7A1):c.7687-6C>T rs200429526
NM_000094.3(COL7A1):c.8094C>T (p.Gly2698=) rs199936185
NM_000094.3(COL7A1):c.89C>T (p.Thr30Ile) rs74453879
NM_000094.4(COL7A1):c.*216G>C
NM_000094.4(COL7A1):c.3786+15G>A

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