List of variants in gene PKHD1 reported as pathogenic by GeneDx

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: 36

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)	rs137852949	0.00066
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)	rs200179145	0.00044
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)	rs746838237	0.00010
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	rs369925690	0.00008
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)	rs760222236	0.00007
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)	rs398124502	0.00005
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)	rs398124478	0.00004
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)	rs765209037	0.00003
NM_138694.4(PKHD1):c.10637del (p.Val3546fs)	rs770461067	0.00003
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)	rs779050294	0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)	rs142107837	0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs)	rs398124483	0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)	rs181208607	0.00003
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)	rs201082169	0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)	rs148617572	0.00002
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	rs199568593	0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)	rs773136605	0.00002
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)	rs781368899	0.00001
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)	rs727504089	0.00001
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter)	rs1350620976	0.00001
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter)	rs770522674	0.00001
NM_138694.4(PKHD1):c.8555-2A>C	rs1020621286	0.00001
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)	rs752889346
NM_138694.4(PKHD1):c.10998del (p.Ile3666fs)	rs1554183097
NM_138694.4(PKHD1):c.1233+1G>A	rs886061623
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs)	rs1064796287
NM_138694.4(PKHD1):c.2770C>T (p.Gln924Ter)
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)	rs398124484
NM_138694.4(PKHD1):c.4141del (p.Val1381fs)	rs778537772
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter)	rs1581808463
NM_138694.4(PKHD1):c.5751+1G>A	rs775638588
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)	rs201881567
NM_138694.4(PKHD1):c.8829dup (p.Ile2944fs)	rs2151011995
NM_138694.4(PKHD1):c.8909_8912del (p.Phe2970fs)	rs1473686155
NM_138694.4(PKHD1):c.930del (p.Thr311fs)	rs398124501

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