List of variants reported as likely pathogenic for autosomal recessive disease by The Shared Resource Centre "Genome", Research Centre for Medical Genetics

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NC_000001.11:g.(?_216108034)_(216108100_?)del
NC_000001.11:g.(?_216462679)_(216462739_?)del
NC_000015.10:g.(?_43906612)_(43906674_)?del
NM_000260.4(MYO7A):c.1740_1747del (p.Val581fs)	rs2135345560
NM_000260.4(MYO7A):c.3612_3615del (p.Ser1205fs)
NM_000260.4(MYO7A):c.3893G>A (p.Gly1298Glu)
NM_000260.4(MYO7A):c.4528G>A (p.Glu1510Lys)
NM_000441.2(SLC26A4):c.107A>C (p.His36Pro)
NM_000441.2(SLC26A4):c.208C>T (p.Pro70Ser)
NM_001145026.2(PTPRQ):c.1291C>T (p.Arg431Ter)
NM_005422.4(TECTA):c.2458A>T (p.Lys820Ter)
NM_016239.4(MYO15A):c.8910del (p.Val2971fs)
NM_032119.4(ADGRV1):c.10198C>T (p.Gln3400Ter)
NM_032119.4(ADGRV1):c.6610C>T (p.Gln2204Ter)	rs1053590019
NM_138691.3(TMC1):c.1750C>T (p.Gln584Ter)
NM_144672.4(OTOA):c.562_569dup (p.Phe191fs)
NM_194248.3(OTOF):c.2214+5G>C
NM_194248.3(OTOF):c.2656del (p.Val886fs)
NM_194248.3(OTOF):c.4903A>T (p.Arg1635Ter)
NM_194248.3(OTOF):c.5169_5170del (p.Ile1724fs)

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