List of variants in gene PKHD1 reported as likely pathogenic for Autosomal dominant polycystic liver disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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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.8518C>T (p.Arg2840Cys)	rs200432861	0.00006
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)	rs773136605	0.00002
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)	rs781368899	0.00001
NM_138694.4(PKHD1):c.9230G>C (p.Trp3077Ser)	rs1250269841	0.00001
NM_138694.4(PKHD1):c.10727G>T (p.Trp3576Leu)	rs2150413999
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)	rs786204696
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)	rs746972457
NM_138694.4(PKHD1):c.4346G>T (p.Gly1449Val)	rs2128144126
NM_138694.4(PKHD1):c.7529C>A (p.Ser2510Tyr)	rs1775373904
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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