ClinVar Miner

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

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Gene type:
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Total variants: 41
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HGVS dbSNP
NC_000006.12:g.(?_51855873)_(51912596_?)dup
NC_000006.12:g.(?_51855883)_(51912586_?)dup
NM_138694.3(PKHD1):c.11174_11175-4798del
NM_138694.4(PKHD1):c.1118+1G>T
NM_138694.4(PKHD1):c.11398+2T>C rs754038777
NM_138694.4(PKHD1):c.11665+1G>A rs759851475
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) rs750730042
NM_138694.4(PKHD1):c.1836+1G>A rs780898021
NM_138694.4(PKHD1):c.1964+1G>T
NM_138694.4(PKHD1):c.2280-2A>G
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903
NM_138694.4(PKHD1):c.3561-1G>A
NM_138694.4(PKHD1):c.390+1G>T rs752327566
NM_138694.4(PKHD1):c.390+1del rs1554227162
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.53-1G>A rs775511838
NM_138694.4(PKHD1):c.5380+2T>G
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875
NM_138694.4(PKHD1):c.5751+1G>A rs775638588
NM_138694.4(PKHD1):c.5751+3A>G rs1581726525
NM_138694.4(PKHD1):c.5752-2A>G rs1057516407
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys)
NM_138694.4(PKHD1):c.6808+1G>T
NM_138694.4(PKHD1):c.6809-2A>T rs1340926191
NM_138694.4(PKHD1):c.6866-1G>C
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA rs1562581286
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr) rs1037991711
NM_138694.4(PKHD1):c.778+1G>C rs753471298
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128
NM_138694.4(PKHD1):c.8440+1G>A
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys) rs200432861
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286
NM_138694.4(PKHD1):c.8648_8650TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) rs1288017883
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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