ClinVar Miner

List of variants in gene FAT2, SLC36A1 studied for cerebellar disorder

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001447.3(FAT2):c.7283T>C (p.Phe2428Ser) rs6892335 0.99601
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.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.10350G>A (p.Leu3450=) rs36092108 0.04171
NM_001447.3(FAT2):c.12464C>G (p.Ser4155Cys) rs145466001 0.00031
NM_001447.3(FAT2):c.10673G>A (p.Arg3558Gln) rs137870998 0.00004
NM_001447.3(FAT2):c.12899T>C (p.Met4300Thr) rs1443089616 0.00002
NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn) rs770597316 0.00001
NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln) rs201335279 0.00001
NM_001447.3(FAT2):c.11978C>T (p.Ala3993Val) rs748005307 0.00001
NM_001447.3(FAT2):c.10111A>G (p.Ile3371Val)
NM_001447.3(FAT2):c.11435C>T (p.Thr3812Ile)
NM_001447.3(FAT2):c.11792C>T (p.Thr3931Met)
NM_001447.3(FAT2):c.12060-13_12060-11dup rs66498388
NM_001447.3(FAT2):c.12337A>G (p.Asn4113Asp)
NM_001447.3(FAT2):c.3781G>C (p.Gly1261Arg)
NM_001447.3(FAT2):c.5237T>C (p.Val1746Ala) rs765754012
NM_001447.3(FAT2):c.7376G>A (p.Gly2459Glu)
NM_001447.3(FAT2):c.9835C>G (p.Leu3279Val) rs1363769217
NM_001447.3(FAT2):c.9896C>T (p.Ser3299Phe) rs2127588750

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