ClinVar Miner

List of variants in gene combination COL17A1, MIR936 reported as pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000494.4(COL17A1):c.2228-3_2235delinsTTG	rs1554848576
NM_000494.4(COL17A1):c.2240del (p.Pro747fs)

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