ClinVar Miner

List of variants in gene TOR1AIP1 reported as benign for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_015602.4(TOR1AIP1):c.1503G>A (p.Ala501=) rs627897 0.93133
NM_015602.4(TOR1AIP1):c.554-4G>A rs2245425 0.58997
NM_015602.4(TOR1AIP1):c.827C>G (p.Pro276Arg) rs609521 0.54825
NM_015602.4(TOR1AIP1):c.879A>C (p.Gln293His) rs17279712 0.05445
NM_015602.4(TOR1AIP1):c.964+17A>G rs17370826 0.05277
NM_015602.4(TOR1AIP1):c.909T>C (p.Asn303=) rs115742637 0.01001
NM_015602.4(TOR1AIP1):c.576G>A (p.Arg192=) rs146164995 0.00116
NM_015602.4(TOR1AIP1):c.531_532insTCA (p.Val177_Arg178insSer) rs145521179 0.00041
NM_015602.4(TOR1AIP1):c.948A>G (p.Pro316=) rs573163000 0.00040
NM_015602.4(TOR1AIP1):c.554-1G>A rs200993053 0.00003
NM_015602.4(TOR1AIP1):c.476-3dup
NM_015602.4(TOR1AIP1):c.611-8dup rs771143442
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter) rs2148480016
NM_015602.4(TOR1AIP1):c.964+1G>A rs2274955

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