ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP
NM_138694.3(PKHD1):c.11174_11175-4798del
NM_138694.3(PKHD1):c.390+1delG rs1554227162
NM_138694.4(PKHD1):c.11398+2T>C
NM_138694.4(PKHD1):c.11665+1G>A rs759851475
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837
NM_138694.4(PKHD1):c.390+1G>T rs752327566
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875
NM_138694.4(PKHD1):c.5751+1G>A
NM_138694.4(PKHD1):c.6809-2A>T
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA rs1562581286
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616
NM_138694.4(PKHD1):c.8648_8650TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn) rs1060501356
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) rs1057524563

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