List of variants studied for cerebellar disorder by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter)	rs1022325907	0.00002
NM_002739.5(PRKCG):c.1900C>T (p.Arg634Cys)	rs980400591	0.00001
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu)	rs1602349280
NM_001127222.2(CACNA1A):c.4508A>G (p.Asn1503Ser)	rs2144748359
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del	rs1568440440
NM_001378615.1(CC2D2A):c.4021_4022del (p.Thr1341fs)	rs1577396376
NM_004115.4(FGF14):c.194-1G>C
NM_015160.3(PMPCA):c.1093C>T (p.Leu365Phe)	rs2131591617
NM_015215.4(CAMTA1):c.1456G>A (p.Asp486Asn)
NM_015272.5(RPGRIP1L):c.2305-1G>A	rs863225215
NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser)	rs2083259164
NM_018075.5(ANO10):c.101G>A (p.Trp34Ter)
NM_018896.5(CACNA1G):c.1288G>A (p.Gly430Ser)	rs1598151147
NM_018896.5(CACNA1G):c.3601G>A (p.Gly1201Ser)	rs1450096310
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs)	rs1555208870
NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter)	rs1554226673

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