List of variants in gene PKHD1 reported by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)	rs757854282	0.00001
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro)	rs886039888
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys)	rs1554223332
NM_138694.4(PKHD1):c.7351-1G>C	rs1554282540
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val)	rs1554263076
NM_138694.4(PKHD1):c.8798-2A>T	rs1582470309
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu)	rs1582469538
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala)	rs1057516201
NM_138694.4(PKHD1):c.9253C>G (p.Gln3085Glu)	rs1164973591

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