ClinVar Miner

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

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Total variants: 41
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HGVS dbSNP
NM_030962.3(SBF2):c.1015C>G (p.Pro339Ala) rs0
NM_030962.3(SBF2):c.1045A>G (p.Lys349Glu) rs746685729
NM_030962.3(SBF2):c.1066C>T (p.Arg356Ter) rs1032796987
NM_030962.3(SBF2):c.1067G>A (p.Arg356Gln) rs188588431
NM_030962.3(SBF2):c.1124A>G (p.Gln375Arg) rs770153492
NM_030962.3(SBF2):c.1244G>T (p.Gly415Val) rs0
NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg) rs199894823
NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.3(SBF2):c.1519G>A (p.Glu507Lys) rs139217120
NM_030962.3(SBF2):c.1537C>T (p.Gln513Ter) rs1480710758
NM_030962.3(SBF2):c.1559G>A (p.Arg520Gln) rs546485749
NM_030962.3(SBF2):c.1563A>G (p.Ile521Met) rs0
NM_030962.3(SBF2):c.1573T>C (p.Cys525Arg) rs746860317
NM_030962.3(SBF2):c.1632C>A (p.Phe544Leu) rs0
NM_030962.3(SBF2):c.190A>G (p.Thr64Ala) rs374114606
NM_030962.3(SBF2):c.266A>C (p.Glu89Ala) rs0
NM_030962.3(SBF2):c.3518G>A (p.Arg1173His) rs0
NM_030962.3(SBF2):c.3668T>C (p.Leu1223Ser) rs0
NM_030962.3(SBF2):c.3824G>A (p.Arg1275His) rs150028248
NM_030962.3(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523
NM_030962.3(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228
NM_030962.3(SBF2):c.4299G>C (p.Arg1433Ser) rs1590131053
NM_030962.3(SBF2):c.4332A>C (p.Lys1444Asn) rs0
NM_030962.3(SBF2):c.4355A>G (p.Lys1452Arg) rs0
NM_030962.3(SBF2):c.4384A>T (p.Asn1462Tyr) rs0
NM_030962.3(SBF2):c.4443+1G>C rs1564872328
NM_030962.3(SBF2):c.4459C>T (p.Pro1487Ser) rs1590103742
NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330
NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255
NM_030962.3(SBF2):c.4782T>G (p.Tyr1594Ter) rs1384571991
NM_030962.3(SBF2):c.4805A>G (p.Lys1602Arg) rs147772705
NM_030962.3(SBF2):c.4981C>G (p.Gln1661Glu) rs0
NM_030962.3(SBF2):c.5017_5019GAA[1] (p.Glu1674del) rs572571832
NM_030962.3(SBF2):c.5410A>G (p.Met1804Val) rs755264093
NM_030962.3(SBF2):c.5483G>A (p.Cys1828Tyr) rs146064484
NM_030962.3(SBF2):c.703A>G (p.Ser235Gly) rs0
NM_030962.3(SBF2):c.808A>G (p.Thr270Ala) rs0
NM_030962.3(SBF2):c.861+5G>C rs879253963
NM_030962.3(SBF2):c.862-2A>G rs1590716243
NM_030962.3(SBF2):c.87G>C (p.Gln29His) rs751336040
NM_030962.3(SBF2):c.913T>C (p.Cys305Arg) rs0

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