ClinVar Miner

List of variants studied for Epithelial recurrent erosion dystrophy; Epidermolysis bullosa, junctional 4, intermediate

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000494.4(COL17A1):c.1336G>A (p.Gly446Ser) rs149983875 0.00383
NM_000494.4(COL17A1):c.3418+2del rs775244527 0.00024
NM_000494.4(COL17A1):c.4081G>A (p.Gly1361Arg) rs143021968 0.00023
NM_000494.4(COL17A1):c.415+2T>G rs147734242 0.00011
NM_000494.4(COL17A1):c.2362+7C>T rs199555448 0.00010
NM_000494.4(COL17A1):c.3277+1G>A rs199527325 0.00009
NM_000494.4(COL17A1):c.3277+3G>C rs757250244 0.00007
NM_000494.4(COL17A1):c.1142-1G>A rs113218289 0.00001
NM_000494.4(COL17A1):c.2165-2A>G rs1215427707 0.00001
NM_000494.4(COL17A1):c.3198C>T (p.Ser1066=) rs369035370 0.00001
NM_000494.4(COL17A1):c.340del (p.Ser114fs) rs766864711 0.00001
NM_000494.4(COL17A1):c.3419-10A>T rs1448663798 0.00001
NM_000494.4(COL17A1):c.1183del (p.Ala395fs)
NM_000494.4(COL17A1):c.1939+1G>C rs760697124
NM_000494.4(COL17A1):c.2065G>A (p.Gly689Ser)
NM_000494.4(COL17A1):c.2228-3_2235delinsTTG rs1554848576
NM_000494.4(COL17A1):c.2398+2T>C rs2493312925
NM_000494.4(COL17A1):c.2497G>T (p.Gly833Ter)
NM_000494.4(COL17A1):c.2516-11C>A
NM_000494.4(COL17A1):c.2551+1G>T rs112151584
NM_000494.4(COL17A1):c.2647+1G>A
NM_000494.4(COL17A1):c.3222del (p.Val1075fs)
NM_000494.4(COL17A1):c.3821_3829delinsC (p.Gly1274fs) rs1210666598
NM_000494.4(COL17A1):c.4145_4148del (p.Glu1382fs) rs765243124
NM_000494.4(COL17A1):c.4156+1G>C rs373469159
NM_000494.4(COL17A1):c.4294+2T>C
NM_000494.4(COL17A1):c.4319dup (p.Gly1441fs)

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