List of variants in gene PKHD1 reported by Mendelics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val)	rs2435322	0.95778
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)	rs115045643	0.00681
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)	rs150925674	0.00340
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)	rs148932323	0.00287
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)	rs78518523	0.00076
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	rs369925690	0.00008
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)	rs367707903	0.00004
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)	rs369292828	0.00001
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr)	rs1582024305
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del)	rs1554217913
NM_138694.4(PKHD1):c.1693+2T>G	rs1581999471
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro)	rs1203260419
NM_138694.4(PKHD1):c.2946del (p.Cys983fs)	rs1581910835
NM_138694.4(PKHD1):c.7029C>A (p.Tyr2343Ter)	rs202223718
NM_138694.4(PKHD1):c.8441-5A>G	rs922193595
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)	rs146649803

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