List of variants studied for cerebellar degeneration by Suma Genomics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_025114.4(CEP290):c.6645+1G>A	rs201218801	0.00006
NM_000051.4(ATM):c.3965T>C (p.Leu1322Pro)	rs786203306	0.00001
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)	rs568461905
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)	rs1786504555
NM_001378452.1(ITPR1):c.1252-10T>A	rs2125191741
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)	rs886039392
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)	rs863225176
NM_015378.4(VPS13D):c.10519T>G (p.Phe3507Val)	rs772644485
NM_015378.4(VPS13D):c.8903G>T (p.Arg2968Leu)	rs750000898
NM_018896.5(CACNA1G):c.2810C>T (p.Ser937Leu)	rs1250995341
NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro)	rs2137303851

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