List of variants reported as pathogenic by Northcott Neuroscience Laboratory, ANZAC Research Institute

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)	rs137852972	0.00002
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)	rs587777879	0.00001
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala)	rs587777877
NM_000166.6(GJB1):c.580A>G (p.Met194Val)	rs587777878
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu)	rs587777876
NM_000399.5(EGR2):c.1232A>G (p.Asp411Gly)	rs2132702182
NM_014727.3(KMT2B):c.5073C>T (p.Gly1691=)	rs2146461810
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)	rs119103265
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)	rs587777875
NM_015046.7(SETX):c.8C>T (p.Thr3Ile)	rs28941475

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