ClinVar Miner

List of variants reported as uncertain significance for Knobloch syndrome 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln)	rs200484625	0.00148
NM_001379500.1(COL18A1):c.3491C>T (p.Pro1164Leu)	rs532834770	0.00009

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