List of variants in gene PKHD1 reported as likely pathogenic by Blueprint Genetics

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)	rs180675584	0.00006
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)	rs200432861	0.00006
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val)	rs777976050	0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)	rs367707903	0.00004
NM_138694.4(PKHD1):c.390+1G>T	rs752327566	0.00002
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)	rs777377414	0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)	rs752994816	0.00001
NM_138694.4(PKHD1):c.10145del (p.Phe3382fs)	rs759439479
NM_138694.4(PKHD1):c.10658T>A (p.Ile3553Asn)	rs137852948
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)	rs1582038191
NM_138694.4(PKHD1):c.2279+5G>A	rs1581955260
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp)	rs794727466
NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu)	rs1581827172
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)	rs1057517273
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter)	rs1581808463
NM_138694.4(PKHD1):c.7109+3A>C	rs1583202788
NM_138694.4(PKHD1):c.778+1G>C	rs753471298
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)	rs398124498

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