ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by Blueprint Genetics

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Gene type:
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Total variants: 34
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HGVS dbSNP
NM_001009944.3(PKD1):c.10407T>A (p.Asp3469Glu)
NM_001009944.3(PKD1):c.11880C>A (p.Asp3960Glu)
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12003+5G>T
NM_001009944.3(PKD1):c.12139-3C>G
NM_001009944.3(PKD1):c.1325C>T (p.Ala442Val)
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys) rs1567215326
NM_001009944.3(PKD1):c.2444T>C (p.Phe815Ser)
NM_001009944.3(PKD1):c.2732T>G (p.Val911Gly)
NM_001009944.3(PKD1):c.285G>T (p.Glu95Asp)
NM_001009944.3(PKD1):c.296G>T (p.Ser99Ile)
NM_001009944.3(PKD1):c.3043C>T (p.Arg1015Trp)
NM_001009944.3(PKD1):c.3200T>C (p.Phe1067Ser)
NM_001009944.3(PKD1):c.3205C>T (p.Pro1069Ser)
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val)
NM_001009944.3(PKD1):c.3961C>T (p.Pro1321Ser)
NM_001009944.3(PKD1):c.4187A>T (p.Asp1396Val)
NM_001009944.3(PKD1):c.4340C>A (p.Ala1447Glu)
NM_001009944.3(PKD1):c.4901G>T (p.Gly1634Val)
NM_001009944.3(PKD1):c.4910T>G (p.Val1637Gly)
NM_001009944.3(PKD1):c.4968T>C (p.Val1656=)
NM_001009944.3(PKD1):c.4984G>A (p.Val1662Ile)
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del)
NM_001009944.3(PKD1):c.5984G>C (p.Arg1995Pro)
NM_001009944.3(PKD1):c.5999C>G (p.Ser2000Cys)
NM_001009944.3(PKD1):c.7470_7475del (p.Lys2490_His2492delinsAsn)
NM_001009944.3(PKD1):c.8112_8132del (p.Gly2705_Ala2711del)
NM_001009944.3(PKD1):c.8615T>A (p.Ile2872Asn)
NM_001009944.3(PKD1):c.9077G>C (p.Arg3026Pro)
NM_001009944.3(PKD1):c.9185T>G (p.Val3062Gly)
NM_001009944.3(PKD1):c.9201+5G>A
NM_001009944.3(PKD1):c.9527T>A (p.Leu3176Gln)
NM_001009944.3(PKD1):c.9853G>A (p.Val3285Ile)
NM_001009944.3(PKD1):c.9925A>C (p.Thr3309Pro)

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