List of variants reported as pathogenic for cerebellar disorder by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)	rs575767207	0.00003
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	rs121918204	0.00002
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter)	rs760752847	0.00002
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)	rs267607115	0.00001
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)	rs72551318
NM_001134831.2(AHI1):c.2623+1G>T	rs751823180
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)	rs764719093
NM_001378615.1(CC2D2A):c.4483G>T (p.Glu1495Ter)	rs1553845300
NM_004977.3(KCNC3):c.11_12del (p.Ser4fs)	rs1555781806
NM_006796.3(AFG3L2):c.1164+1G>A	rs1598832526
NM_014363.6(SACS):c.10644del (p.Phe3548fs)	rs1555250160
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter)	rs1360298758
NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter)	rs1555252345
NM_020247.5(COQ8A):c.1396del (p.Glu466fs)	rs1553280621
NM_182961.4(SYNE1):c.18012+1G>T	rs1562842409
NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter)	rs1564136499
NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter)	rs1563941569

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