List of variants reported as pathogenic for cerebellar degeneration by MGZ Medical Genetics Center

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-TE):m.14724G>A	rs1603224846
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	rs587779834
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)	rs864622164
NM_000051.4(ATM):c.5497-2A>C	rs786203796
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)	rs876660134
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)	rs72551318
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)	rs797044955
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His)	rs104894699
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)	rs1566067485
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter)	rs1589625941
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter)	rs119456966

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