List of variants reported as pathogenic for Autosomal recessive polycystic kidney disease by Mendelics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	rs369925690	0.00008
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr)	rs1582024305
NM_138694.4(PKHD1):c.1693+2T>G	rs1581999471
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)	rs267601070
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)	rs146649803

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