List of variants reported as pathogenic for autosomal recessive disease by Kids Neuroscience Centre, Sydney Children's Hospitals Network

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_018075.5(ANO10):c.1163-9A>G	rs1368543726	0.00001
NM_000144.5(FXN):c.165+1338AAG[180]	rs193922938
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs)	rs398123796
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)	rs121434348
NM_022124.6(CDH23):c.1291-1G>A	rs2132596686
NM_024989.4(PGAP1):c.1221-3A>G	rs1701868598

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