List of variants reported as uncertain significance for autosomal recessive disease by Institute of Human Genetics, Cologne University

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001129.5(AEBP1):c.1141G>C (p.Glu381Gln)	rs202186949	0.00003
NM_017807.4(OSGEP):c.550G>A (p.Ala184Thr)	rs1217940902	0.00001
NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup)	rs1553641597
NM_001127671.2(LIFR):c.808T>G (p.Cys270Gly)	rs2112493238
NM_001367624.2(ZNF469):c.11821A>C (p.Thr3941Pro)	rs1555520642
NM_004369.4(COL6A3):c.5500+3A>C	rs1345603228
NM_004937.3(CTNS):c.462-27_462-3del	rs1555563374
NM_025132.4(WDR19):c.1010C>T (p.Ser337Phe)
NM_025132.4(WDR19):c.2897A>G (p.Asp966Gly)
NM_138694.4(PKHD1):c.2853C>A (p.Thr951=)	rs139815340

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