List of variants in gene PKHD1 reported as likely benign by Illumina Laboratory Services, Illumina

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: 32

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.*2331C>T	rs76762827	0.04028
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)	rs45500692	0.02436
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile)	rs35445653	0.01835
NM_138694.4(PKHD1):c.*3044A>T	rs41273712	0.01744
NM_138694.4(PKHD1):c.*1525G>A	rs6941633	0.01740
NM_138694.4(PKHD1):c.*636C>A	rs41273718	0.01441
NM_138694.4(PKHD1):c.1234-5C>T	rs116124750	0.01262
NM_138694.4(PKHD1):c.*1637G>A	rs77227361	0.01221
NM_138694.4(PKHD1):c.*2082A>G	rs79635571	0.01218
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile)	rs34548196	0.01161
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.7110-7T>A	rs113034899	0.00770
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=)	rs140791735	0.00769
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)	rs139014478	0.00721
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)	rs115045643	0.00681
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)	rs115338476	0.00551
NM_138694.4(PKHD1):c.9829+10T>G	rs143526199	0.00518
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His)	rs2661487	0.00453
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=)	rs143226202	0.00257
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)	rs147222255	0.00223
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)	rs142526715	0.00145
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)	rs143616240	0.00100
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)	rs17752991	0.00084
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg)	rs117122807	0.00080
NM_138694.4(PKHD1):c.*1559T>C	rs546309551	0.00001
NM_138694.4(PKHD1):c.*2086A>G	rs569538414	0.00001
NM_138694.4(PKHD1):c.*2201G>A	rs535226662	0.00001
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=)	rs199996156	0.00001
NM_138694.4(PKHD1):c.*2064G>T	rs141074474
NM_138694.4(PKHD1):c.*2666G>A	rs77036429
NM_138694.4(PKHD1):c.6333-8_6333-7del	rs138161138

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