List of variants in gene PKHD1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 21

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)	rs147222255	0.00223
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)	rs149781976	0.00146
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)	rs200204857	0.00061
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)	rs201432731	0.00058
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met)	rs199621305	0.00025
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His)	rs200497761	0.00016
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)	rs145141656	0.00016
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)	rs199900211	0.00015
NM_138694.4(PKHD1):c.7238G>A (p.Arg2413His)	rs772219802	0.00009
NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val)	rs142608481	0.00007
NM_138694.4(PKHD1):c.11123T>C (p.Met3708Thr)	rs373896034	0.00006
NM_138694.4(PKHD1):c.2703C>T (p.Asn901=)	rs199768081	0.00006
NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=)	rs201670044	0.00006
NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys)	rs199846197	0.00004
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys)	rs727504094	0.00003
NM_138694.4(PKHD1):c.8158C>T (p.Pro2720Ser)	rs374235991	0.00003
NM_138694.4(PKHD1):c.8788C>T (p.Arg2930Trp)	rs752776137	0.00001
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala)	rs144365187
NM_138694.4(PKHD1):c.5257_5259del (p.Val1753del)
NM_138694.4(PKHD1):c.7832G>C (p.Arg2611Pro)
NM_138694.4(PKHD1):c.8009G>A (p.Ser2670Asn)	rs1583013252

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