ClinVar Miner

List of variants reported as pathogenic by Arkana Molecular Diagnostic Laboratory, Arkana Laboratories

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)	rs376161880	0.00010
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs)	rs2092600549
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter)	rs750913623

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