ClinVar Miner

List of variants in gene SBF2 reported as uncertain significance for Charcot-Marie-Tooth disease

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg) rs199894823 0.00059
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His) rs150028248 0.00059
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys) rs139217120 0.00029
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330 0.00029
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523 0.00007
NM_030962.4(SBF2):c.1015C>G (p.Pro339Ala) rs1360970766 0.00004
NM_030962.4(SBF2):c.1067G>A (p.Arg356Gln) rs188588431 0.00004
NM_030962.4(SBF2):c.1559G>A (p.Arg520Gln) rs546485749 0.00004
NM_030962.4(SBF2):c.1573T>C (p.Cys525Arg) rs746860317 0.00003
NM_030962.4(SBF2):c.190A>G (p.Thr64Ala) rs374114606 0.00003
NM_030962.4(SBF2):c.1066C>T (p.Arg356Ter) rs1032796987 0.00001
NM_030962.4(SBF2):c.1124A>G (p.Gln375Arg) rs770153492 0.00001
NM_030962.4(SBF2):c.1244G>T (p.Gly415Val) rs996602317 0.00001
NM_030962.4(SBF2):c.1563A>G (p.Ile521Met) rs770392081 0.00001
NM_030962.4(SBF2):c.3518G>A (p.Arg1173His) rs757577170 0.00001
NM_030962.4(SBF2):c.3668T>C (p.Leu1223Ser) rs760210827 0.00001
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228 0.00001
NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser) rs1590103742 0.00001
NM_030962.4(SBF2):c.5483G>A (p.Cys1828Tyr) rs146064484 0.00001
NM_030962.4(SBF2):c.703A>G (p.Ser235Gly) rs1441387053 0.00001
NM_030962.4(SBF2):c.808A>G (p.Thr270Ala) rs1194829190 0.00001
NM_030962.4(SBF2):c.87G>C (p.Gln29His) rs751336040 0.00001
NM_030962.4(SBF2):c.913T>C (p.Cys305Arg) rs758820956 0.00001
NM_030962.4(SBF2):c.1045A>G (p.Lys349Glu) rs746685729
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.4(SBF2):c.1537C>T (p.Gln513Ter) rs1480710758
NM_030962.4(SBF2):c.1632C>A (p.Phe544Leu) rs777289065
NM_030962.4(SBF2):c.266A>C (p.Glu89Ala) rs1949706329
NM_030962.4(SBF2):c.4299G>C (p.Arg1433Ser) rs1590131053
NM_030962.4(SBF2):c.4332A>C (p.Lys1444Asn) rs1853955123
NM_030962.4(SBF2):c.4355A>G (p.Lys1452Arg) rs1853954509
NM_030962.4(SBF2):c.4384A>T (p.Asn1462Tyr) rs1853953374
NM_030962.4(SBF2):c.4443+1G>C rs1564872328
NM_030962.4(SBF2):c.861+5G>C rs879253963
NM_030962.4(SBF2):c.862-2A>G rs1590716243

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