List of variants reported as pathogenic by Neurogenetics Research Program, University of Adelaide

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	rs55960271	0.00561
GRCh37/hg19 22q11.21(chr22:18873001-21469900)
NC_012920.1:m.3243A>G	rs199474657
NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)	rs730880264
NM_001272071.2(AP1S2):c.-1+1G>A	rs1934288587
NM_001845.6(COL4A1):c.4114G>C (p.Gly1372Arg)	rs2139149224
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	rs752746786
NM_003611.3(OFD1):c.1412-322G>A	rs2047747647
NM_006009.4(TUBA1A):c.50G>A (p.Gly17Asp)	rs2121248568
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)	rs587777428
NM_014946.4(SPAST):c.1099-4371_1245+1010del
NM_020151.3(STARD7):c.291-1572_291-1518ATTTT[376]ATTTC[274]
NM_021120.4(DLG3):c.-8dup
NM_181303.2(NLGN3):c.1600C>T (p.Pro534Ser)	rs1569485503
NM_182914.3(SYNE2):c.16153C>T (p.Gln5385Ter)	rs2153715439
Single allele

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