List of variants studied for cystic kidney disease by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	rs200391019	0.00006
NM_001009944.3(PKD1):c.12391G>T (p.Glu4131Ter)	rs764447736	0.00003
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter)	rs1295732689	0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)	rs745770404	0.00001
NM_000297.4(PKD2):c.111_117delinsGG (p.Ser39fs)	rs1726227364
NM_000297.4(PKD2):c.481_502del (p.Gly161fs)	rs1553923513
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)	rs1167476946
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser)	rs1596582702
NM_001009944.3(PKD1):c.7063A>C (p.Thr2355Pro)	rs2092400099
NM_001009944.3(PKD1):c.7271C>G (p.Thr2424Arg)	rs1367567191
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1])	rs763199524
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn)	rs370608473

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