List of variants reported as likely pathogenic for autosomal recessive disease by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)	rs398123143	0.00001
NM_000057.4(BLM):c.2855G>C (p.Gly952Ala)
NM_001177701.3(IFT27):c.197C>A (p.Ala66Asp)	rs765920708
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro)	rs745756308

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