List of variants in gene PKD1 reported as pathogenic by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	rs1057518897	0.00001
NM_001009944.3(PKD1):c.10319del (p.Gly3440fs)	rs2091891993
NM_001009944.3(PKD1):c.108del (p.Cys37fs)	rs2092941062
NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg)	rs1057518959
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)	rs777269070
NM_001009944.3(PKD1):c.12604_12631del (p.Gly4202fs)	rs2091400717
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs)	rs1057518923
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp)	rs747483368
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter)	rs1057518899
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter)	rs1057518783
NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del)	rs1555454847
NM_001009944.3(PKD1):c.6483dup (p.Arg2162fs)	rs1334651902
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs)	rs1555453872
NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter)	rs762003393
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)	rs1555459108
NM_001009944.3(PKD1):c.9656_9674del (p.Leu3219fs)	rs2092035920

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