List of variants studied for autosomal recessive disease by Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)	rs367970695	0.00002
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)	rs1169623576	0.00001
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys)	rs1563083476
NM_000899.5(KITLG):c.715-2A>G
NM_001128178.3(NPHP1):c.1943C>T (p.Ala648Val)
NM_002180.3(IGHMBP2):c.1493T>C (p.Leu498Pro)	rs2154008654
NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys)	rs2137547970
NM_014363.6(SACS):c.5972dup (p.Arg1992fs)	rs2137613912
NM_014363.6(SACS):c.6125G>A (p.Cys2042Tyr)	rs2137612456
NM_015102.5(NPHP4):c.3920T>A (p.Leu1307Gln)	rs2100386611
NM_020247.5(COQ8A):c.1593CAGGGA[1] (p.531DR[1])	rs1660021291
NM_020247.5(COQ8A):c.844A>G (p.Ser282Gly)	rs1659738579
NM_138694.4(PKHD1):c.100G>A (p.Gly34Arg)	rs2128244638
NM_138694.4(PKHD1):c.10640T>C (p.Leu3547Pro)	rs2150414704
NM_138694.4(PKHD1):c.1628T>C (p.Leu543Pro)
NM_206933.4(USH2A):c.3837del (p.Leu1278_Tyr1279insTer)
NM_206933.4(USH2A):c.5294T>C (p.Leu1765Pro)	rs2102559645

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