List of variants in gene PKD1 reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.2216G>A (p.Arg739Gln)	rs40433	0.96736
NM_001009944.3(PKD1):c.1119C>T (p.Leu373=)	rs35842	0.83599
NM_001009944.3(PKD1):c.3380C>T (p.Pro1127Leu)	rs145922241	0.00077
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn)	rs141274774	0.00067
NM_001009944.3(PKD1):c.6484C>T (p.Arg2162Trp)	rs373256534	0.00009
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del)	rs771434359

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