List of variants studied for cerebellar ataxia by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)	rs121908200	0.00002
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)	rs376754552	0.00001
NM_000391.4(TPP1):c.89+1G>A	rs1855631590
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)	rs72551322
NM_001134831.2(AHI1):c.1270del (p.Ile424fs)	rs1788846426
NM_001378452.1(ITPR1):c.5616G>A (p.Met1872Ile)	rs1002376493
NM_001378452.1(ITPR1):c.7636G>A (p.Val2546Met)	rs2106492941
NM_015215.4(CAMTA1):c.4767del (p.Lys1589fs)	rs754008719

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