ClinVar Miner

List of variants in gene FAT2 reported as benign for cerebellar ataxia

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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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.1527C>T (p.Pro509=) rs1465690 0.90395
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

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