List of variants reported as likely pathogenic by Laboratory of Molecular Genetics, Children's Memorial Health Institute

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)	rs201105958	0.00009
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	rs200391019	0.00006
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)	rs794727759	0.00001
NM_138694.4(PKHD1):c.1001T>A (p.Val334Asp)	rs1384539153
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)	rs769559267
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro)	rs1320401077
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser)	rs1806602099
NM_138694.4(PKHD1):c.2747A>C (p.His916Pro)	rs1805300035
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)	rs370277502
NM_138694.4(PKHD1):c.3287T>C (p.Leu1096Pro)	rs1803322601
NM_138694.4(PKHD1):c.4209_4232del (p.Gly1404_Gly1411del)	rs1802029655
NM_138694.4(PKHD1):c.7721T>G (p.Met2574Arg)	rs768265052

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