List of variants in gene PKD1 reported as likely pathogenic by (GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada)

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.10441del (p.Val3481fs)	rs2091884240
NM_001009944.3(PKD1):c.10822-2A>G	rs2151707926
NM_001009944.3(PKD1):c.11294_11313del (p.Pro3765fs)	rs2091620612
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)	rs1567198691
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del)	rs1596556896
NM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln)	rs2092344562
NM_001009944.3(PKD1):c.7957_7958del (p.Leu2653fs)	rs2151766800
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del)	rs1596527370

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