List of variants in gene PKHD1 reported as likely benign 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile)	rs9474034	0.04948
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)	rs45500692	0.02436
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)	rs142522748	0.01047
NM_138694.4(PKHD1):c.888A>T (p.Pro296=)	rs76012218	0.00916
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)	rs41273726	0.00885
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)	rs7766366	0.00773
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=)	rs116156469	0.00271
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His)	rs143832120	0.00271
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg)	rs117122807	0.00080
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)	rs143979330	0.00035
NM_138694.4(PKHD1):c.10797C>T (p.His3599=)	rs577357613	0.00012
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=)	rs1443176251	0.00006
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=)	rs749740610	0.00004
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=)	rs199996156	0.00001
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=)	rs140033417	0.00001
NM_138694.4(PKHD1):c.733C>T (p.Leu245=)	rs111809699

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