ClinVar Miner

List of variants in gene SBF2 reported as likely benign for Charcot-Marie-Tooth disease type 4

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Gene type:
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Total variants: 43
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HGVS dbSNP
NM_030962.3(SBF2):c.*1399T>C rs60154961
NM_030962.3(SBF2):c.*1413A>G rs59613534
NM_030962.3(SBF2):c.*1619A>C rs360126
NM_030962.3(SBF2):c.*177A>C rs192542785
NM_030962.3(SBF2):c.1071C>T (p.Ala357=) rs775272908
NM_030962.3(SBF2):c.1164C>T (p.His388=) rs959559753
NM_030962.3(SBF2):c.1296+7C>T rs774033750
NM_030962.3(SBF2):c.1297-6T>C rs1554975593
NM_030962.3(SBF2):c.141+9T>A rs760322801
NM_030962.3(SBF2):c.1459C>A (p.Arg487=) rs120074139
NM_030962.3(SBF2):c.1491T>C (p.Asn497=) rs767806871
NM_030962.3(SBF2):c.1509A>G (p.Glu503=) rs143773975
NM_030962.3(SBF2):c.1569G>A (p.Lys523=) rs776951161
NM_030962.3(SBF2):c.280-5T>C rs368118378
NM_030962.3(SBF2):c.291G>A (p.Lys97=) rs150056369
NM_030962.3(SBF2):c.3582C>T (p.Leu1194=) rs201514622
NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508
NM_030962.3(SBF2):c.3651C>T (p.Ala1217=) rs550913752
NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) rs145351367
NM_030962.3(SBF2):c.3837T>G (p.Ser1279=) rs1554909254
NM_030962.3(SBF2):c.3843A>G (p.Thr1281=) rs147597665
NM_030962.3(SBF2):c.3888G>A (p.Ser1296=) rs375669985
NM_030962.3(SBF2):c.402+5A>G rs1060503800
NM_030962.3(SBF2):c.4095C>T (p.Ile1365=) rs142904756
NM_030962.3(SBF2):c.4107A>C (p.Ser1369=) rs769205402
NM_030962.3(SBF2):c.4263A>G (p.Thr1421=) rs368381654
NM_030962.3(SBF2):c.4335G>A (p.Glu1445=) rs1370306059
NM_030962.3(SBF2):c.4515G>A (p.Val1505=) rs144935862
NM_030962.3(SBF2):c.4533A>G (p.Thr1511=) rs79251068
NM_030962.3(SBF2):c.4659C>T (p.Pro1553=) rs368478401
NM_030962.3(SBF2):c.4687T>C (p.Leu1563=) rs563878786
NM_030962.3(SBF2):c.4699-9C>A rs376668219
NM_030962.3(SBF2):c.4701T>G (p.Ala1567=) rs750656969
NM_030962.3(SBF2):c.4799C>T (p.Thr1600Ile) rs183468503
NM_030962.3(SBF2):c.4809C>T (p.His1603=) rs199670153
NM_030962.3(SBF2):c.4872G>T (p.Val1624=) rs539369489
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_030962.3(SBF2):c.5112A>G (p.Leu1704=) rs370420894
NM_030962.3(SBF2):c.612G>A (p.Gln204=) rs1554990046
NM_030962.3(SBF2):c.705T>C (p.Ser235=) rs143209062
NM_030962.3(SBF2):c.909C>T (p.Pro303=) rs16907355
NM_030962.3(SBF2):c.93T>C (p.Phe31=) rs200263159
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593

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