List of variants in gene PKHD1 reported as pathogenic by Counsyl

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.1A>G (p.Met1Val)	rs376987651	0.00001
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter)	rs770522674	0.00001
NM_138694.4(PKHD1):c.711_714del (p.Met238fs)	rs786204588	0.00001
NM_138694.4(PKHD1):c.1068dup (p.Asn357Ter)	rs1554219449
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)	rs1554183235
NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter)	rs1554167673
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)	rs786204696
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter)	rs1554198717
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer)	rs1405067373
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs)	rs1554289495

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