List of variants in gene PKHD1 reported as likely pathogenic by Yale Center for Mendelian Genomics, Yale University

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)	rs137852949	0.00066
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter)	rs201812542	0.00022
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)	rs781368899	0.00001
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)	rs746972457
NM_138694.4(PKHD1):c.820dup (p.Arg274fs)	rs1582064844
NM_138694.4(PKHD1):c.880+1G>C	rs1582064292
NM_138694.4(PKHD1):c.9208C>T (p.Gln3070Ter)	rs1582441455

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