List of variants in gene PKD1 reported as likely pathogenic by PreventionGenetics, part of Exact Sciences

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: 32

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)	rs752793757	0.00001
NM_001009944.3(PKD1):c.9562A>G (p.Asn3188Asp)	rs1384099162	0.00001
NM_001009944.3(PKD1):c.10850T>C (p.Leu3617Pro)	rs1567158067
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val)	rs1483214870
NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly)
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro)	rs2151695909
NM_001009944.3(PKD1):c.12407G>C (p.Arg4136Thr)
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter)	rs1181168635
NM_001009944.3(PKD1):c.1385G>A (p.Arg462Lys)	rs2092659023
NM_001009944.3(PKD1):c.1529G>C (p.Arg510Pro)
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg)	rs1616940
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs)	rs1555457807
NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del)
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys)	rs1458516705
NM_001009944.3(PKD1):c.4379dup (p.Glu1461fs)
NM_001009944.3(PKD1):c.4697_4698del (p.Val1566fs)
NM_001009944.3(PKD1):c.4897G>T (p.Glu1633Ter)
NM_001009944.3(PKD1):c.5609A>G (p.Asn1870Ser)
NM_001009944.3(PKD1):c.5830G>T (p.Gly1944Ter)	rs200001471
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs)	rs2151790499
NM_001009944.3(PKD1):c.6116A>C (p.Gln2039Pro)
NM_001009944.3(PKD1):c.6793_6807del (p.Tyr2265_Ser2269del)
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro)	rs1567191044
NM_001009944.3(PKD1):c.7114T>G (p.Ser2372Ala)
NM_001009944.3(PKD1):c.7118G>A (p.Cys2373Tyr)
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del)
NM_001009944.3(PKD1):c.8016+2T>C	rs1596536505
NM_001009944.3(PKD1):c.8161+1G>T
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs)	rs1057518604
NM_001009944.3(PKD1):c.841del (p.His281fs)
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro)	rs769045618
NM_001009944.3(PKD1):c.9794C>A (p.Ser3265Tyr)

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