List of variants in gene PKHD1 reported as uncertain significance by Genome-Nilou Lab

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.9866G>T (p.Ser3289Ile)	rs148932323	0.00287
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser)	rs199589074	0.00020
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)	rs138242579	0.00011
NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val)	rs142608481	0.00007
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu)	rs200278368	0.00006
NM_138694.4(PKHD1):c.12188A>G (p.His4063Arg)	rs755769277	0.00003
NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr)	rs747072396	0.00003
NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser)	rs1343246818	0.00003
NM_138694.4(PKHD1):c.1218G>T (p.Glu406Asp)	rs748017071	0.00002
NM_138694.4(PKHD1):c.3817G>C (p.Ala1273Pro)	rs199643308	0.00002
NM_138694.4(PKHD1):c.12163G>A (p.Gly4055Arg)	rs778545068	0.00001
NM_138694.4(PKHD1):c.7940C>T (p.Pro2647Leu)	rs1448998543	0.00001
NM_138694.4(PKHD1):c.8382C>G (p.Asp2794Glu)	rs746096431	0.00001
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile)	rs768138709	0.00001
NM_138694.4(PKHD1):c.10160C>T (p.Thr3387Ile)	rs2150418782
NM_138694.4(PKHD1):c.11037A>T (p.Ser3679=)	rs1204544455
NM_138694.4(PKHD1):c.11920G>A (p.Gly3974Ser)	rs2150241066
NM_138694.4(PKHD1):c.1303G>C (p.Gly435Arg)	rs763244593
NM_138694.4(PKHD1):c.3259G>A (p.Val1087Met)	rs372422063
NM_138694.4(PKHD1):c.3707C>T (p.Ser1236Phe)	rs542983527
NM_138694.4(PKHD1):c.4273C>T (p.Leu1425Phe)	rs565836750
NM_138694.4(PKHD1):c.5786C>G (p.Ser1929Cys)	rs1791759592
NM_138694.4(PKHD1):c.674A>G (p.Gln225Arg)	rs749690371
NM_138694.4(PKHD1):c.7012G>C (p.Gly2338Arg)	rs2127557145
NM_138694.4(PKHD1):c.7514T>G (p.Leu2505Trp)	rs769645972
NM_138694.4(PKHD1):c.7946A>T (p.Asn2649Ile)	rs2151628916
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)	rs745523374
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)	rs759568939
NM_138694.4(PKHD1):c.9739G>C (p.Val3247Leu)	rs2150981332

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