List of variants in gene PKD1 reported as pathogenic by Mendelics

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)	rs148812376	0.00032
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)	rs1555455457	0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	rs1057518897	0.00001
NM_001009944.3(PKD1):c.10546_10547insCAGC (p.Leu3516fs)	rs2151710316
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter)	rs1325300747
NM_001009944.3(PKD1):c.12004-7_12012dup	rs1596475487
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)	rs1555458704
NM_001009944.3(PKD1):c.1931del (p.Gly644fs)	rs1596580483
NM_001009944.3(PKD1):c.2048G>A (p.Trp683Ter)	rs1174034883
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001009944.3(PKD1):c.2828_2831del (p.Ala943fs)	rs1596574774
NM_001009944.3(PKD1):c.330del (p.Phe111fs)	rs2151826084
NM_001009944.3(PKD1):c.3597_3601dup (p.Ala1201fs)	rs2151800732
NM_001009944.3(PKD1):c.4243del (p.Asp1415fs)	rs34495017
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter)	rs1596557266
NM_001009944.3(PKD1):c.4929C>G (p.Tyr1643Ter)	rs752948922
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter)	rs747638599

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