List of variants in gene PKHD1 reported as likely benign 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: 26

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)	rs147487242	0.00646
NM_138694.4(PKHD1):c.2279+13T>G	rs188914598	0.00572
NM_138694.4(PKHD1):c.1964+17G>T	rs201349527	0.00517
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)	rs140065359	0.00482
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)	rs45503297	0.00407
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.9788T>C (p.Val3263Ala)	rs146519878	0.00261
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=)	rs143226202	0.00257
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)	rs139815340	0.00230
NM_138694.4(PKHD1):c.7912-5T>G	rs371510537	0.00075
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=)	rs148335285	0.00052
NM_138694.4(PKHD1):c.129T>C (p.Asp43=)	rs201195801	0.00040
NM_138694.4(PKHD1):c.333C>T (p.Phe111=)	rs145815264	0.00036
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=)	rs149427926	0.00026
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=)	rs200679577	0.00017
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)	rs760710708	0.00009
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)	rs142855690	0.00007
NM_138694.4(PKHD1):c.5958C>T (p.His1986=)	rs745388926	0.00004
NM_138694.4(PKHD1):c.7591C>T (p.Leu2531=)	rs150559372	0.00004
NM_138694.4(PKHD1):c.1425C>T (p.Asn475=)	rs200745148	0.00001
NM_138694.4(PKHD1):c.8430G>A (p.Glu2810=)	rs1188949424	0.00001
NM_138694.4(PKHD1):c.8988C>T (p.Phe2996=)	rs576108391	0.00001
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)	rs141790557
NM_138694.4(PKHD1):c.1836C>T (p.His612=)
NM_138694.4(PKHD1):c.3645C>T (p.Ser1215=)	rs1581815094

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