ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP
NM_030962.3(SBF2):c.*1091G>A
NM_030962.3(SBF2):c.*112G>A rs144513995
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.1297-13T>C
NM_030962.3(SBF2):c.1297-6T>C rs1554975593
NM_030962.3(SBF2):c.1368G>A (p.Arg456=)
NM_030962.3(SBF2):c.1395+8_1395+11del rs763174480
NM_030962.3(SBF2):c.141+9T>A rs760322801
NM_030962.3(SBF2):c.142-22dup
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.1601-20T>C
NM_030962.3(SBF2):c.1623G>A (p.Thr541=) rs184849947
NM_030962.3(SBF2):c.1711-8G>T rs1590619062
NM_030962.3(SBF2):c.1711-9T>C
NM_030962.3(SBF2):c.1725A>C (p.Ala575=) rs144514407
NM_030962.3(SBF2):c.1812C>T (p.Asp604=) rs765658939
NM_030962.3(SBF2):c.1854T>G (p.Thr618=) rs1224103000
NM_030962.3(SBF2):c.258T>C (p.Tyr86=) rs778681306
NM_030962.3(SBF2):c.280-5T>C rs368118378
NM_030962.3(SBF2):c.291G>A (p.Lys97=) rs150056369
NM_030962.3(SBF2):c.3456-22_3456-18del
NM_030962.3(SBF2):c.3474C>T (p.Val1158=) rs376295625
NM_030962.3(SBF2):c.354C>T (p.Pro118=) rs371771984
NM_030962.3(SBF2):c.3651C>T (p.Ala1217=) rs550913752
NM_030962.3(SBF2):c.3744C>G (p.Leu1248=) rs752703631
NM_030962.3(SBF2):c.3754A>T (p.Ser1252Cys) rs139967004
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.387T>C (p.Tyr129=) rs1590797444
NM_030962.3(SBF2):c.3888G>A (p.Ser1296=) rs375669985
NM_030962.3(SBF2):c.3969G>A (p.Ser1323=) rs77833016
NM_030962.3(SBF2):c.403-15T>G rs887143579
NM_030962.3(SBF2):c.4095C>T (p.Ile1365=) rs142904756
NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577
NM_030962.3(SBF2):c.4101T>G (p.Thr1367=)
NM_030962.3(SBF2):c.4111G>C (p.Val1371Leu) rs149501654
NM_030962.3(SBF2):c.4128G>A (p.Ala1376=) rs191964053
NM_030962.3(SBF2):c.4263A>G (p.Thr1421=) rs368381654
NM_030962.3(SBF2):c.4290C>T (p.Pro1430=)
NM_030962.3(SBF2):c.4335G>A (p.Glu1445=) rs1370306059
NM_030962.3(SBF2):c.4509C>T (p.His1503=) rs138816399
NM_030962.3(SBF2):c.4512T>C (p.Tyr1504=) rs772156530
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.4539C>T (p.Leu1513=)
NM_030962.3(SBF2):c.4611A>G (p.Lys1537=) rs930093275
NM_030962.3(SBF2):c.4635T>A (p.Ile1545=)
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.4701T>G (p.Ala1567=) rs750656969
NM_030962.3(SBF2):c.4758G>A (p.Glu1586=)
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.4839A>G (p.Gly1613=) rs759504729
NM_030962.3(SBF2):c.4872G>T (p.Val1624=) rs539369489
NM_030962.3(SBF2):c.48G>A (p.Glu16=) rs889453292
NM_030962.3(SBF2):c.4947G>A (p.Leu1649=) rs149659495
NM_030962.3(SBF2):c.5004C>G (p.Thr1668=) rs150598413
NM_030962.3(SBF2):c.5007G>A (p.Val1669=) rs918725972
NM_030962.3(SBF2):c.5017_5019GAA[1] (p.Glu1674del) rs572571832
NM_030962.3(SBF2):c.5037C>T (p.Arg1679=) rs200784979
NM_030962.3(SBF2):c.5038-9C>G
NM_030962.3(SBF2):c.5043A>G (p.Gln1681=)
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_030962.3(SBF2):c.5073G>T (p.Val1691=) rs373722394
NM_030962.3(SBF2):c.513+18A>T rs201201683
NM_030962.3(SBF2):c.5231+14C>T rs371184526
NM_030962.3(SBF2):c.5277T>G (p.Gly1759=)
NM_030962.3(SBF2):c.5451+8G>C
NM_030962.3(SBF2):c.5452-3T>C
NM_030962.3(SBF2):c.5469T>C (p.Arg1823=) rs373457270
NM_030962.3(SBF2):c.5472G>A (p.Val1824=) rs1353568885
NM_030962.3(SBF2):c.5493T>C (p.Asp1831=) rs779051883
NM_030962.3(SBF2):c.5526C>A (p.Ile1842=) rs376788960
NM_030962.3(SBF2):c.612G>A (p.Gln204=) rs1554990046
NM_030962.3(SBF2):c.620-9T>C rs199676895
NM_030962.3(SBF2):c.651A>G (p.Ala217=) rs200293270
NM_030962.3(SBF2):c.705T>C (p.Ser235=) rs143209062
NM_030962.3(SBF2):c.753-16T>C rs7128234
NM_030962.3(SBF2):c.777G>A (p.Pro259=) rs142261202
NM_030962.3(SBF2):c.78A>G (p.Lys26=)
NM_030962.3(SBF2):c.861+9T>A
NM_030962.3(SBF2):c.936A>G (p.Pro312=) rs765770300
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593
NM_030962.3(SBF2):c.948A>C (p.Leu316=)

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