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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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.190A>G (p.Thr64Ala)	rs374114606	0.00005
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.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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