ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by Mendelics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00019
NM_001009944.3(PKD1):c.9740G>A (p.Arg3247His) rs140791671 0.00019
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys) rs773407492 0.00016
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys) rs540634317 0.00014
NM_001009944.3(PKD1):c.7321G>A (p.Gly2441Ser) rs376618983 0.00006
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419 0.00003
NM_001009944.3(PKD1):c.11240C>A (p.Pro3747Gln) rs2151701971
NM_001009944.3(PKD1):c.12095G>A (p.Gly4032Asp) rs142768096
NM_001009944.3(PKD1):c.6148A>G (p.Asn2050Asp) rs1302127440

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