List of variants in gene PKD1 reported as likely pathogenic by Mayo Clinic Laboratories, Mayo Clinic

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.10236del (p.Ser3413fs)	rs2544689115
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)	rs1303102528
NM_001009944.3(PKD1):c.11947del (p.Gln3982_Leu3983insTer)
NM_001009944.3(PKD1):c.12746_12803del (p.Arg4249fs)
NM_001009944.3(PKD1):c.1308T>A (p.Cys436Ter)
NM_001009944.3(PKD1):c.1607-1G>T
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001009944.3(PKD1):c.3466_3493del (p.Gly1156fs)
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg)	rs2151801188
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys)	rs1458516705
NM_001009944.3(PKD1):c.416G>A (p.Trp139Ter)	rs2544883158
NM_001009944.3(PKD1):c.4857del (p.Ala1620fs)	rs2544817791
NM_001009944.3(PKD1):c.5587_5588del (p.Ser1863fs)
NM_001009944.3(PKD1):c.604G>T (p.Glu202Ter)	rs1263936807
NM_001009944.3(PKD1):c.6916-1G>C
NM_001009944.3(PKD1):c.7615del (p.Leu2539fs)	rs2544777760
NM_001009944.3(PKD1):c.8144_8151dup (p.Asn2718fs)
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)	rs2092203712
NM_001009944.3(PKD1):c.9407_9426del (p.Ala3136fs)

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