List of variants in gene PKHD1 reported as uncertain significance for Polycystic kidney disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)	rs146519878	0.00261
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)	rs149841071	0.00039
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp)	rs372340268	0.00010
NM_138694.4(PKHD1):c.171A>G (p.Gln57=)	rs543640706	0.00006
NM_138694.4(PKHD1):c.3704G>A (p.Arg1235Gln)	rs567239866	0.00003
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)	rs777158800	0.00001
NM_138694.4(PKHD1):c.3561-11A>G	rs774114631	0.00001
NM_138694.4(PKHD1):c.11309A>G (p.Gln3770Arg)	rs1770520773
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr)	rs1554208064

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