List of variants reported as pathogenic by School of Computer Science, University of Waterloo

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_145649.5(GCNT2):c.14G>A (p.Trp5Ter)	rs185805779	0.00023
NM_178857.6(RP1L1):c.6530T>G (p.Leu2177Ter)	rs777475406	0.00007
NM_001609.4(ACADSB):c.653dup (p.Val219fs)	rs755014798
NM_025074.7(FRAS1):c.6202A>T (p.Lys2068Ter)	rs1578330963
NM_153704.6(TMEM67):c.230C>A (p.Ser77Ter)	rs1812544253
NM_178857.6(RP1L1):c.4020_4021del (p.Glu1340fs)	rs760615743
NM_182961.4(SYNE1):c.17872_17875del (p.Leu5958fs)	rs2153783491

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