ClinVar Miner

List of variants reported as pathogenic for Lichtenstein-Knorr syndrome by OMIM

Included ClinVar conditions (1):

Lichtenstein-Knorr syndrome

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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_003047.5(SLC9A1):c.862del (p.Ile288fs)	rs2083214834
NM_003047.5(SLC9A1):c.913G>A (p.Gly305Arg)	rs786204831

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