List of variants in gene SBF1 reported as uncertain significance for Charcot-Marie-Tooth disease type 4

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: 42

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HGVS	dbSNP	gnomAD frequency
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser)	rs199705951	0.00206
NM_002972.4(SBF1):c.2785G>A (p.Val929Ile)	rs370463792	0.00125
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met)	rs188976869	0.00122
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp)	rs201399007	0.00091
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly)	rs200718883	0.00088
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His)	rs147869659	0.00084
NM_002972.4(SBF1):c.55G>C (p.Gly19Arg)	rs765666942	0.00075
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp)	rs202156491	0.00058
NM_002972.4(SBF1):c.142-3C>T	rs191369963	0.00038
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His)	rs202149945	0.00036
NM_002972.4(SBF1):c.2605G>A (p.Val869Met)	rs200365973	0.00033
NM_002972.4(SBF1):c.4517C>T (p.Thr1506Ile)	rs374199797	0.00031
NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp)	rs370182117	0.00027
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)	rs199783239	0.00021
NM_002972.4(SBF1):c.2195G>A (p.Arg732His)	rs374201600	0.00014
NM_002972.4(SBF1):c.4724C>T (p.Pro1575Leu)	rs199779197	0.00012
NM_002972.4(SBF1):c.3251C>T (p.Pro1084Leu)	rs749516637	0.00011
NM_002972.4(SBF1):c.3772G>A (p.Ala1258Thr)	rs370712299	0.00008
NM_002972.4(SBF1):c.4058A>G (p.Tyr1353Cys)	rs373208315	0.00007
NM_002972.4(SBF1):c.4037G>A (p.Arg1346His)	rs758581593	0.00006
NM_002972.4(SBF1):c.4834G>A (p.Val1612Met)	rs370715026	0.00005
NM_002972.4(SBF1):c.1696G>T (p.Val566Leu)	rs374194474	0.00004
NM_002972.4(SBF1):c.3287C>T (p.Ser1096Leu)	rs200085962	0.00004
NM_002972.4(SBF1):c.2737G>A (p.Ala913Thr)	rs755038470	0.00003
NM_002972.4(SBF1):c.2763A>G (p.Ala921=)	rs754332334	0.00003
NM_002972.4(SBF1):c.1519C>T (p.Arg507Trp)	rs756061176	0.00002
NM_002972.4(SBF1):c.2987A>G (p.Asp996Gly)	rs559790533	0.00002
NM_002972.4(SBF1):c.4882G>A (p.Glu1628Lys)	rs377302977	0.00002
NM_002972.4(SBF1):c.1069A>G (p.Thr357Ala)	rs746439204	0.00001
NM_002972.4(SBF1):c.3068C>G (p.Thr1023Ser)	rs548786259	0.00001
NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly)	rs1556430522
NM_002972.4(SBF1):c.1579G>A (p.Ala527Thr)	rs2067666245
NM_002972.4(SBF1):c.2663G>A (p.Arg888His)	rs201519518
NM_002972.4(SBF1):c.2885C>T (p.Thr962Ile)
NM_002972.4(SBF1):c.2938G>A (p.Gly980Arg)	rs1180199698
NM_002972.4(SBF1):c.2948T>C (p.Leu983Pro)
NM_002972.4(SBF1):c.3873GGCCTC[3] (p.1292AS[3])	rs761546537
NM_002972.4(SBF1):c.4147C>T (p.Arg1383Trp)	rs1243439376
NM_002972.4(SBF1):c.431T>A (p.Val144Glu)
NM_002972.4(SBF1):c.5008C>T (p.Arg1670Trp)	rs1158592167
NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly)	rs373534319
NM_002972.4(SBF1):c.622C>A (p.Arg208Ser)	rs777596406

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