List of variants reported as likely pathogenic for autosomal recessive disease by Center of Genomic medicine, Geneva, University Hospital of Geneva

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00966
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)	rs201697532	0.00039
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)	rs1060499654	0.00001
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser)	rs1244339215	0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)	rs777219451	0.00001
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn)	rs1057519500	0.00001
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser)	rs771251344	0.00001
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys)	rs727503443	0.00001
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val)	rs397517925	0.00001
NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)	rs775453643
NM_001614.5(ACTG1):c.440G>A (p.Arg147His)	rs2143779222
NM_001614.5(ACTG1):c.826G>A (p.Glu276Lys)	rs2143775790
NM_014363.6(SACS):c.7991G>T (p.Gly2664Val)	rs1060499656
NM_015340.4(LARS2):c.457A>C (p.Asn153His)	rs786205560
NM_018136.5(ASPM):c.9923G>T (p.Arg3308Leu)	rs201362977
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)	rs876657756
NM_025074.7(FRAS1):c.3975+1G>C
NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr)	rs1952754017

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