List of variants in gene PKD1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.10700C>T (p.Ala3567Val)	rs2151708958
NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg)	rs1057518959
NM_001009944.3(PKD1):c.12230_12239del (p.Ala4077fs)	rs1555444715
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro)	rs1064797205
NM_001009944.3(PKD1):c.155C>G (p.Ser52Trp)	rs2092940490
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)	rs1567202750
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)	rs747362311
NM_001009944.3(PKD1):c.6778_6780del (p.Ile2260del)
NM_001009944.3(PKD1):c.7209+1G>C
NM_001009944.3(PKD1):c.7483T>A (p.Cys2495Ser)	rs2092338268
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)	rs797044902
NM_001009944.3(PKD1):c.7825_7827del (p.Ile2609del)

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