ClinVar Miner

List of variants reported as benign for Spinocerebellar ataxia 45 by Genome-Nilou Lab

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001447.3(FAT2):c.3541T>C (p.Tyr1181His) rs6872614 0.99676
NM_001447.3(FAT2):c.7283T>C (p.Phe2428Ser) rs6892335 0.99601
NM_001447.3(FAT2):c.1527C>T (p.Pro509=) rs1465690 0.90395
NM_001447.3(FAT2):c.12507C>T (p.Ser4169=) rs7723266 0.86047
NM_001447.3(FAT2):c.5544T>C (p.Pro1848=) rs3797875 0.85860
NM_001447.3(FAT2):c.11898T>C (p.His3966=) rs2304028 0.72373
NM_001447.3(FAT2):c.11043T>C (p.Asp3681=) rs3822699 0.71549
NM_001447.3(FAT2):c.10541T>C (p.Leu3514Ser) rs2053028 0.71072
NM_001447.3(FAT2):c.10893G>A (p.Met3631Ile) rs6650971 0.70468
NM_001447.3(FAT2):c.10854C>T (p.Tyr3618=) rs3734046 0.70200
NM_001447.3(FAT2):c.12350C>T (p.Pro4117Leu) rs1105168 0.66830
NM_001447.3(FAT2):c.9213T>A (p.Thr3071=) rs1432643 0.53410
NM_001447.3(FAT2):c.2057T>C (p.Phe686Ser) rs9324700 0.49081
NM_001447.3(FAT2):c.2631T>C (p.Val877=) rs3734057 0.49054
NM_001447.3(FAT2):c.774G>A (p.Ser258=) rs3734060 0.49039
NM_001447.3(FAT2):c.2562G>A (p.Arg854=) rs3734058 0.49027
NM_001447.3(FAT2):c.2794C>T (p.Leu932=) rs10085060 0.49025
NM_001447.3(FAT2):c.2361C>T (p.Ile787=) rs3734059 0.49009
NM_001447.3(FAT2):c.1720C>T (p.Arg574Cys) rs1432862 0.48913
NM_001447.3(FAT2):c.3375C>T (p.Ile1125=) rs2304054 0.48264
NM_001447.3(FAT2):c.3010G>A (p.Gly1004Ser) rs3734055 0.46145
NM_001447.3(FAT2):c.3491C>T (p.Pro1164Leu) rs2304053 0.44875
NM_001447.3(FAT2):c.10350G>A (p.Leu3450=) rs36092108 0.04171
NM_001447.3(FAT2):c.12060-13_12060-11dup rs66498388

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