List of variants in gene PKHD1 reported as benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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.7587G>A (p.Gly2529=)	rs12210295	0.49949
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.8108-16G>C	rs73442356	0.01832
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)	rs145184792	0.01187
NM_138694.4(PKHD1):c.8174-18T>A	rs111383080	0.01154
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val)	rs76895755	0.01078
NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=)	rs2499482	0.01071
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser)	rs2499481	0.01066
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)	rs7766366	0.00773
NM_138694.4(PKHD1):c.7110-7T>A	rs113034899	0.00770
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.4343A>G (p.Glu1448Gly)	rs116809571	0.00632
NM_138694.4(PKHD1):c.2279+13T>G	rs188914598	0.00572
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.6777C>T (p.Phe2259=)	rs140065359	0.00482
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)	rs45503297	0.00407
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)	rs150925674	0.00340
NM_138694.4(PKHD1):c.2715+7del	rs551015414	0.00313
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser)	rs139555370	0.00158
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)	rs17752991	0.00084
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)	rs139306706	0.00073
NM_138694.4(PKHD1):c.1675C>T (p.Arg559Trp)	rs141384205	0.00055
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.11525G>T (p.Arg3842Leu)	rs76572975
NM_138694.4(PKHD1):c.449-15TTC[2]	rs545812620
NM_138694.4(PKHD1):c.6333-8_6333-7del	rs138161138
NM_138694.4(PKHD1):c.733C>T (p.Leu245=)	rs111809699
NM_138694.4(PKHD1):c.7734-27dup	rs201176305

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