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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=)	rs1896976	0.96234
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val)	rs2435322	0.95778
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg)	rs9381994	0.52715
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg)	rs4715227	0.52431
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=)	rs12210295	0.49949
NM_138694.4(PKHD1):c.8302+12T>A	rs1571084	0.45597
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys)	rs9370096	0.41404
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val)	rs9296669	0.41087
NM_138694.4(PKHD1):c.7734-4T>C	rs7452724	0.39369
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=)	rs9349603	0.39323
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=)	rs765525	0.30589
NM_138694.4(PKHD1):c.234C>T (p.Asp78=)	rs9474143	0.29769
NM_138694.4(PKHD1):c.1234-10T>A	rs4715272	0.12902
NM_138694.4(PKHD1):c.214C>T (p.Leu72=)	rs6901799	0.09338
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=)	rs4715271	0.07716
NM_138694.4(PKHD1):c.10521C>T (p.His3507=)	rs34460237	0.06613
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=)	rs62406036	0.05014
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)	rs62406032	0.05010
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn)	rs2661488	0.04490
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=)	rs17667728	0.03744
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=)	rs1266923	0.03202
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile)	rs35445653	0.01835
NM_138694.4(PKHD1):c.11174+11A>G	rs115072237	0.01349
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)	rs139014478	0.00721
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)	rs113562492	0.00702
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)	rs140065359	0.00482
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)	rs45503297	0.00407
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)	rs148932323	0.00287
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu)	rs76572975

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