ClinVar Miner

List of variants in gene PKD1 reported by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149 0.00007
NM_001009944.3(PKD1):c.4709C>T (p.Thr1570Met) rs368161263 0.00003
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter) rs774453006 0.00001
NM_001009944.3(PKD1):c.12559C>T (p.Pro4187Ser) rs778378731 0.00001
NM_001009944.3(PKD1):c.6446C>T (p.Pro2149Leu) rs982097679 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.10821G>C (p.Lys3607Asn) rs2091722144
NM_001009944.3(PKD1):c.109del (p.Cys37fs) rs2151858299
NM_001009944.3(PKD1):c.11411+4A>G rs2544624200
NM_001009944.3(PKD1):c.11412-7_11468del rs2544620556
NM_001009944.3(PKD1):c.11723T>C (p.Leu3908Pro) rs2151688569
NM_001009944.3(PKD1):c.12155_12156del (p.Val4052fs)
NM_001009944.3(PKD1):c.12396G>C (p.Leu4132Phe)
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs) rs1555462463
NM_001009944.3(PKD1):c.1723-2A>C
NM_001009944.3(PKD1):c.216-8C>G rs1157566139
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs) rs1567204146
NM_001009944.3(PKD1):c.3812_3813del (p.Thr1271fs) rs2544827572
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.655C>T (p.Gln219Ter) rs2092673393
NM_001009944.3(PKD1):c.8049C>A (p.Cys2683Ter) rs377029031
NM_001009944.3(PKD1):c.8137G>T (p.Gly2713Ter)
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.9154G>C (p.Gly3052Arg)
NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu) rs1358566538
NM_001009944.3(PKD1):c.9530dup (p.Gly3177_Ser3178insTer)
NM_001009944.3:c.(9201+1_9398-1)_(10050+1_10051-1)del

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