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: 35
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.9853G>A (p.Val3285Ile) rs201780393 0.00003
NM_001009944.3(PKD1):c.3043C>T (p.Arg1015Trp) rs751946869 0.00001
NM_001009944.3(PKD1):c.3205C>T (p.Pro1069Ser) rs754703070 0.00001
NM_001009944.3(PKD1):c.4901G>T (p.Gly1634Val) rs768244952 0.00001
NM_001009944.3(PKD1):c.10407T>A (p.Asp3469Glu) rs373139880
NM_001009944.3(PKD1):c.11432G>A (p.Cys3811Tyr) rs1596481794
NM_001009944.3(PKD1):c.11880C>A (p.Asp3960Glu) rs754037517
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12003+5G>T rs1596476034
NM_001009944.3(PKD1):c.12139-3C>G rs746284946
NM_001009944.3(PKD1):c.1325C>T (p.Ala442Val) rs1596588261
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys) rs1567215326
NM_001009944.3(PKD1):c.2444T>C (p.Phe815Ser) rs1596576453
NM_001009944.3(PKD1):c.2732T>G (p.Val911Gly) rs1596575196
NM_001009944.3(PKD1):c.285G>T (p.Glu95Asp) rs1305213807
NM_001009944.3(PKD1):c.296G>T (p.Ser99Ile) rs1567219544
NM_001009944.3(PKD1):c.3200T>C (p.Phe1067Ser) rs1596566400
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val) rs139100448
NM_001009944.3(PKD1):c.3961C>T (p.Pro1321Ser) rs772389436
NM_001009944.3(PKD1):c.4187A>T (p.Asp1396Val) rs1413875287
NM_001009944.3(PKD1):c.4340C>A (p.Ala1447Glu) rs76981724
NM_001009944.3(PKD1):c.4910T>G (p.Val1637Gly) rs1200234003
NM_001009944.3(PKD1):c.4968T>C (p.Val1656=) rs777909326
NM_001009944.3(PKD1):c.4984G>A (p.Val1662Ile) rs766683298
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del) rs1596556896
NM_001009944.3(PKD1):c.5984G>C (p.Arg1995Pro) rs752388015
NM_001009944.3(PKD1):c.5999C>G (p.Ser2000Cys) rs1596553232
NM_001009944.3(PKD1):c.7470_7475del (p.Lys2490_His2492delinsAsn) rs1596541230
NM_001009944.3(PKD1):c.8112_8132del (p.Gly2705_Ala2711del) rs1596532130
NM_001009944.3(PKD1):c.8615T>A (p.Ile2872Asn) rs1596526236
NM_001009944.3(PKD1):c.9077G>C (p.Arg3026Pro) rs576970336
NM_001009944.3(PKD1):c.9185T>G (p.Val3062Gly) rs1057518856
NM_001009944.3(PKD1):c.9201+5G>A rs1596521826
NM_001009944.3(PKD1):c.9527T>A (p.Leu3176Gln) rs1596514809
NM_001009944.3(PKD1):c.9925A>C (p.Thr3309Pro) rs1596511656

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