ClinVar Miner

List of variants in gene PKHD1 reported as likely benign by Invitae

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Total variants: 23
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HGVS dbSNP
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=) rs1165946143
NM_138694.4(PKHD1):c.1234-10_1234-9delinsAC rs1554217929
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
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.3783C>T (p.Gly1261=) rs138388301
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.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.7912-5T>G rs371510537
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
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.9546A>G (p.Val3182=) rs758820099
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593

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