List of variants studied for cystic kidney disease by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)	rs749294509	0.00006
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)	rs148617572	0.00002
NM_000297.4(PKD2):c.1979_1982del (p.Tyr660fs)	rs2110129645
NM_001009944.3(PKD1):c.12143_12144insTT (p.Ser4049fs)
NM_001009944.3(PKD1):c.4895_4896del (p.Ile1632fs)
NM_001009944.3(PKD1):c.491del (p.Gln164fs)	rs2151825169
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)	rs1555454411
NM_001009944.3(PKD1):c.[9428_9429insCACGA;9432_9433del]
NM_016306.6(DNAJB11):c.70C>T (p.Arg24Ter)	rs2108473228
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter)	rs1554227215
NM_138694.4(PKHD1):c.3622dup (p.Leu1208fs)	rs2128151491
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)	rs913487671
NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs)	rs1554162725

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