List of variants reported as likely pathogenic for Autosomal recessive polycystic kidney disease by Molecular Biology Laboratory, Fundació Puigvert

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)	rs200179145	0.00044
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)	rs149798764	0.00024
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	rs369925690	0.00008
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)	rs758352210	0.00004
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)	rs893497345	0.00002
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)	rs745770404	0.00001
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)	rs757854282	0.00001
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser)	rs1791737049
NM_138694.4(PKHD1):c.7592T>C (p.Leu2531Pro)	rs1775360219
NM_138694.4(PKHD1):c.790G>A (p.Val264Met)	rs1809647915
NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro)	rs778592523
NM_138694.4(PKHD1):c.8312T>C (p.Val2771Ala)	rs1793719203
NM_138694.4(PKHD1):c.842G>A (p.Gly281Glu)	rs1809634616
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)	rs770068023

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