ClinVar Miner

List of variants in gene TOE1 reported as likely pathogenic

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_025077.4(TOE1):c.757C>T (p.Arg253Trp) rs368182654 0.00005
NM_025077.4(TOE1):c.219G>C (p.Arg73Ser) rs774056037 0.00003
NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr) rs148067486 0.00003
NM_025077.4(TOE1):c.1018C>T (p.Arg340Ter) rs761932920 0.00002
NM_025077.4(TOE1):c.237-2A>G rs773776995 0.00001
NM_025077.4(TOE1):c.307G>A (p.Ala103Thr) rs371848318 0.00001
NM_025077.4(TOE1):c.518T>G (p.Val173Gly) rs777030573 0.00001
NM_025077.4(TOE1):c.544C>T (p.Arg182Ter) rs752569685 0.00001
NM_025077.4(TOE1):c.716T>C (p.Phe239Ser) rs778263701 0.00001
NM_025077.4(TOE1):c.913-2A>G rs779707076 0.00001
NM_025077.4(TOE1):c.955C>T (p.His319Tyr) rs750266350 0.00001
NM_025077.4(TOE1):c.1062del (p.Thr355fs) rs2149260739
NM_025077.4(TOE1):c.1172del (p.Asn391fs) rs777525101
NM_025077.4(TOE1):c.1487C>T (p.Ser496Phe) rs1570626350
NM_025077.4(TOE1):c.539T>A (p.Leu180Gln) rs1647053042
NM_025077.4(TOE1):c.551G>T (p.Arg184Leu) rs267598623
NM_025077.4(TOE1):c.658G>A (p.Glu220Lys) rs1570621473
NM_025077.4(TOE1):c.693T>A (p.Tyr231Ter) rs1570621555
NM_025077.4(TOE1):c.908_910del (p.Phe303del)
NM_025077.4(TOE1):c.937C>G (p.Pro313Ala) rs1557531984
NM_025077.4(TOE1):c.957C>T (p.His319=) rs758153898

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