List of variants in gene COL17A1 reported as likely pathogenic for Junctional epidermolysis bullosa, non-Herlitz type

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000494.4(COL17A1):c.3418+2del	rs775244527	0.00026
NM_000494.4(COL17A1):c.1880del (p.Gly627fs)	rs2134611028
NM_000494.4(COL17A1):c.2336-2A>G	rs1478395810
NM_000494.4(COL17A1):c.2435-6_2440del	rs797045084
NM_000494.4(COL17A1):c.3595G>T (p.Glu1199Ter)	rs2134567157
NM_000494.4(COL17A1):c.464-2A>G
NM_000494.4(COL17A1):c.509C>A (p.Ser170Ter)	rs763578030

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