List of variants in gene PKHD1 reported as likely pathogenic by Natera, Inc.

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: 34

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.11665+1G>A	rs759851475	0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)	rs367707903	0.00004
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)	rs753307105	0.00004
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)	rs779050294	0.00003
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	rs199568593	0.00002
NM_138694.4(PKHD1):c.390+1G>T	rs752327566	0.00002
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)	rs777999875	0.00002
NM_138694.4(PKHD1):c.11398+2T>C	rs754038777	0.00001
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)	rs786204749	0.00001
NM_138694.4(PKHD1):c.1964+1G>T	rs1385712943	0.00001
NM_138694.4(PKHD1):c.53-1G>A	rs775511838	0.00001
NM_138694.4(PKHD1):c.603-2A>G	rs757521428	0.00001
NM_138694.4(PKHD1):c.6808+1G>T	rs1217968843	0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)	rs886061616	0.00001
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)	rs757946548	0.00001
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs)	rs1446729264
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)	rs148300854
NM_138694.4(PKHD1):c.1118+1G>T	rs1808826795
NM_138694.4(PKHD1):c.1233+1G>A	rs886061623
NM_138694.4(PKHD1):c.1836+1G>A	rs780898021
NM_138694.4(PKHD1):c.1965-2A>T	rs2128203974
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)	rs1554212326
NM_138694.4(PKHD1):c.2280-2A>G	rs780675990
NM_138694.4(PKHD1):c.2592+1G>C	rs758812102
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)	rs1057517273
NM_138694.4(PKHD1):c.560G>A (p.Trp187Ter)	rs1810710453
NM_138694.4(PKHD1):c.5752-2A>G	rs1057516407
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)	rs771180444
NM_138694.4(PKHD1):c.602+1G>A	rs1554223950
NM_138694.4(PKHD1):c.6809-2A>T	rs1340926191
NM_138694.4(PKHD1):c.778+1G>C	rs753471298
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del)	rs1554221478
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)	rs1288017883
NM_138694.4(PKHD1):c.9830-2A>G	rs890681861

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