ClinVar Miner

List of variants reported as pathogenic for Lethal Kniest-like syndrome by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
HSPG2, 10328C-T
HSPG2, 89-BP DUP, EX34
NM_005529.7(HSPG2):c.6724+5G>A	rs2152721133

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