ClinVar Miner

List of variants in gene PKHD1 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NM_138694.4(PKHD1):c.*2208A>G rs2784200
NM_138694.4(PKHD1):c.*3025C>T rs2771012
NM_138694.4(PKHD1):c.10156+22398A>G rs1554206689
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=) rs1165946143
NM_138694.4(PKHD1):c.1234-10T>A rs4715272
NM_138694.4(PKHD1):c.1234-10_1234-9delinsAC rs1554217929
NM_138694.4(PKHD1):c.1545C>T (p.Phe515=) rs267601071
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421
NM_138694.4(PKHD1):c.281+3A>G rs79803080
NM_138694.4(PKHD1):c.3288T>C (p.Leu1096=) rs751889282
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=) rs182468850
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571
NM_138694.4(PKHD1):c.4353C>A (p.Pro1451=) rs776581612
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.4503T>G (p.Thr1501=) rs1554198630
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932
NM_138694.4(PKHD1):c.5226G>A (p.Thr1742=) rs747933439
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=) rs187667255
NM_138694.4(PKHD1):c.5236+14A>G rs12210725
NM_138694.4(PKHD1):c.5236+31_5236+34del rs547420704
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823
NM_138694.4(PKHD1):c.6996+9T>A rs878855203
NM_138694.4(PKHD1):c.711A>T (p.Ser237=) rs138184195
NM_138694.4(PKHD1):c.7351-21dup rs768522482
NM_138694.4(PKHD1):c.7912-5T>G rs371510537
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366
NM_138694.4(PKHD1):c.8107+4555A>G rs207466959
NM_138694.4(PKHD1):c.8173+12C>T rs368093611
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) rs183674012
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991
NM_138694.4(PKHD1):c.9546A>G (p.Val3182=) rs758820099
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323

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