ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.4073C>T (p.Ala1358Val) rs376991027 0.00015
NM_001009944.3(PKD1):c.1867A>C (p.Ser623Arg) rs750430411 0.00010
NM_001009944.3(PKD1):c.4049C>T (p.Thr1350Met) rs777460980 0.00003
NM_001009944.3(PKD1):c.9505C>T (p.Arg3169Trp) rs765180455 0.00001
NM_001009944.3(PKD1):c.11201A>G (p.Tyr3734Cys)
NM_001009944.3(PKD1):c.11746G>T (p.Val3916Leu)
NM_001009944.3(PKD1):c.11927G>T (p.Ser3976Ile) rs1022699284
NM_001009944.3(PKD1):c.2038T>G (p.Tyr680Asp) rs2151816239
NM_001009944.3(PKD1):c.2573C>T (p.Thr858Met)
NM_001009944.3(PKD1):c.529+5G>A rs2544882689
NM_001009944.3(PKD1):c.6384C>G (p.Asn2128Lys) rs1247882278
NM_001009944.3(PKD1):c.8224G>A (p.Glu2742Lys) rs202159463
NM_001009944.3(PKD1):c.9201+3G>C

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