ClinVar Miner

List of variants in gene COL7A1 reported by PreventionGenetics,PreventionGenetics

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Total variants: 14
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HGVS dbSNP
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.2469A>C (p.Pro823=) rs886038238
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.4483-11T>C rs74390291
NM_000094.3(COL7A1):c.4818+18T>A rs368227259
NM_000094.3(COL7A1):c.5388+20C>T rs200931039
NM_000094.3(COL7A1):c.6696C>A (p.Pro2232=) rs61729223
NM_000094.3(COL7A1):c.8305-20G>C rs17256786
NM_000094.3(COL7A1):c.8620+18_8620+19insGCC rs138595277
NM_000094.3(COL7A1):c.933C>T (p.Tyr311=) rs121912830

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