ClinVar Miner

List of variants in gene LOC101928008, SBF2 studied for Charcot-Marie-Tooth disease type 4B2

Included ClinVar conditions (1):
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.3455+36C>T rs7483882 0.79947
NM_030962.4(SBF2):c.2035G>A (p.Glu679Lys) rs7102464 0.08286
NM_030962.4(SBF2):c.3111-6T>C rs16907139 0.01676
NM_030962.4(SBF2):c.2850C>T (p.Ile950=) rs74642088 0.01620
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_030962.4(SBF2):c.3036C>T (p.Thr1012=) rs111967328 0.00167
NM_030962.4(SBF2):c.2337C>T (p.Ser779=) rs140730386 0.00144
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_030962.4(SBF2):c.2081C>T (p.Ala694Val) rs141368249 0.00051
NM_030962.4(SBF2):c.3433A>G (p.Arg1145Gly) rs145647154 0.00023
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser) rs138120231 0.00019
NM_030962.4(SBF2):c.2319G>A (p.Ala773=) rs201547070 0.00016
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu) rs145199888 0.00014
NM_030962.4(SBF2):c.2436C>T (p.Ala812=) rs374225152 0.00007
NM_030962.4(SBF2):c.2424T>A (p.Asn808Lys) rs146868794 0.00006
NM_030962.4(SBF2):c.2598G>A (p.Pro866=) rs376372877 0.00006
NM_030962.4(SBF2):c.3006G>T (p.Lys1002Asn) rs572884226 0.00006
NM_030962.4(SBF2):c.1894G>A (p.Ala632Thr) rs1386270581 0.00004
NM_030962.4(SBF2):c.2474A>G (p.Lys825Arg) rs753921188 0.00004
NM_030962.4(SBF2):c.3163A>G (p.Ile1055Val) rs142891020 0.00004
NM_030962.4(SBF2):c.2457T>G (p.Ile819Met) rs746363004 0.00003
NM_030962.4(SBF2):c.1971A>G (p.Val657=) rs368639697 0.00002
NM_030962.4(SBF2):c.2397A>G (p.Thr799=) rs759550730 0.00002
NM_030962.4(SBF2):c.1893C>T (p.Ala631=) rs760154688 0.00001
NM_030962.4(SBF2):c.1897G>A (p.Ala633Thr) rs775198025 0.00001
NM_030962.4(SBF2):c.2100+7G>A rs370918433 0.00001
NM_030962.4(SBF2):c.2600C>T (p.Pro867Leu) rs370198639 0.00001
NM_030962.4(SBF2):c.2610+11A>G rs375912268 0.00001
NM_030962.4(SBF2):c.2669G>A (p.Arg890Gln) rs755699993 0.00001
NM_030962.4(SBF2):c.1861-6T>C rs77334447
NM_030962.4(SBF2):c.1863T>C (p.Asp621=)
NM_030962.4(SBF2):c.1902_1905dup (p.Pro636fs)
NM_030962.4(SBF2):c.2055T>G (p.Tyr685Ter) rs2134006623
NM_030962.4(SBF2):c.2215G>A (p.Glu739Lys) rs2134001289
NM_030962.4(SBF2):c.2329del (p.Trp777fs)
NM_030962.4(SBF2):c.2537-5C>T rs886048783
NM_030962.4(SBF2):c.2549T>C (p.Met850Thr) rs2133990100
NM_030962.4(SBF2):c.2596C>A (p.Pro866Thr) rs1228676321
NM_030962.4(SBF2):c.2611-35AATC[6] rs202029370
NM_030962.4(SBF2):c.2863A>G (p.Lys955Glu) rs1856598871
NM_030962.4(SBF2):c.2870C>A (p.Thr957Lys) rs886048782
NM_030962.4(SBF2):c.2875C>T (p.Gln959Ter) rs120074137
NM_030962.4(SBF2):c.2894A>G (p.Asn965Ser) rs1008248276
NM_030962.4(SBF2):c.3001A>T (p.Met1001Leu) rs781742897
NM_030962.4(SBF2):c.3003G>A (p.Met1001Ile) rs1856494115
NM_030962.4(SBF2):c.3016C>T (p.Pro1006Ser) rs886048781
NM_030962.4(SBF2):c.3110G>A (p.Arg1037His)
NM_030962.4(SBF2):c.3111-3T>C rs2133961719
NM_030962.4(SBF2):c.3257-5C>G rs886048780
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val) rs117957652

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