List of variants in gene PKHD1 reported as uncertain significance by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)	rs142896856	0.00061
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)	rs149798764	0.00024
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu)	rs147933501	0.00022
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His)	rs200497761	0.00016
NM_138694.4(PKHD1):c.12076C>T (p.Gln4026Ter)	rs780097121	0.00001
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser)	rs727504090	0.00001
NM_138694.4(PKHD1):c.2377C>T (p.Arg793Cys)	rs779653146	0.00001
NM_138694.4(PKHD1):c.11310+3A>G	rs1271798139
NM_138694.4(PKHD1):c.11946T>A (p.Cys3982Ter)
NM_138694.4(PKHD1):c.3643A>G (p.Ser1215Gly)	rs752105357
NM_138694.4(PKHD1):c.5426G>A (p.Cys1809Tyr)	rs1800745257
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu)	rs375145340
NM_138694.4(PKHD1):c.9970A>G (p.Lys3324Glu)	rs1785240656

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