List of variants studied for cystic kidney disease by SIB Swiss Institute of Bioinformatics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)	rs62406032	0.05010
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)	rs45500692	0.02436
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)	rs145184792	0.01187
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)	rs142522748	0.01047
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)	rs7766366	0.00773
NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met)	rs45478794	0.00702
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)	rs150925674	0.00340
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)	rs149798764	0.00024
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	rs200391019	0.00006
NM_016306.6(DNAJB11):c.616C>T (p.Arg206Ter)	rs941713150	0.00001
NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg)	rs1553849919
NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro)	rs1553850185
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)	rs777183511

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