ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by Gharavi Laboratory,Columbia University

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Total variants: 13
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HGVS dbSNP
NM_001009944.3(PKD1):c.1047_1049del (p.Asp349_Val350delinsGlu) rs1567217173
NM_001009944.3(PKD1):c.11868_11869insACT (p.Gly3957_Ala3958insThr) rs1567149662
NM_001009944.3(PKD1):c.11986_12000del (p.Phe3996_Val4000del) rs1567148933
NM_001009944.3(PKD1):c.2020_2025dup (p.Gly674_Leu675dup) rs1567212718
NM_001009944.3(PKD1):c.305_307del (p.Lys102del) rs1567219527
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419
NM_001009944.3(PKD1):c.3749G>A (p.Gly1250Asp) rs1567202673
NM_001009944.3(PKD1):c.4127T>C (p.Val1376Ala)
NM_001009944.3(PKD1):c.4319_4321del (p.Ser1440del) rs1567200450
NM_001009944.3(PKD1):c.7183A>T (p.Asn2395Tyr)
NM_001009944.3(PKD1):c.7336_7338del (p.Phe2446del) rs1567186120
NM_001009944.3(PKD1):c.7646_7648del (p.Val2549del) rs1567184420
NM_001009944.3(PKD1):c.9067_9123del (p.Met3023_Ala3041del) rs1567174543

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