List of variants studied for autosomal recessive disease by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00002
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)	rs398123143	0.00001
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser)	rs104894458	0.00001
NM_000057.4(BLM):c.2855G>C (p.Gly952Ala)
NM_001177701.3(IFT27):c.197C>A (p.Ala66Asp)	rs765920708
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs)	rs768759374
NM_001378454.1(ALMS1):c.8598del (p.Glu2867fs)	rs2103892422
NM_002700.3(POU4F3):c.960del (p.Trp321fs)
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_004539.4(NARS1):c.547G>A (p.Gly183Arg)	rs2122437015
NM_005422.4(TECTA):c.3156G>T (p.Trp1052Cys)
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro)	rs745756308
NM_015046.7(SETX):c.2114_2118del (p.Ile705fs)
NM_018075.5(ANO10):c.218G>A (p.Gly73Asp)	rs2149481812
NM_182961.4(SYNE1):c.16228C>T (p.Arg5410Ter)	rs761432453
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521

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