ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP
NM_030962.3(SBF2):c.1967G>C (p.Cys656Ser) rs138120231
NM_030962.3(SBF2):c.2035G>A (p.Glu679Lys) rs7102464
NM_030962.3(SBF2):c.2109T>C (p.Leu703=)
NM_030962.3(SBF2):c.2319G>A (p.Ala773=) rs201547070
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.2337C>T (p.Ser779=) rs140730386
NM_030962.3(SBF2):c.2536+16A>T
NM_030962.3(SBF2):c.2598G>A (p.Pro866=) rs376372877
NM_030962.3(SBF2):c.2611-35AATC[4] rs202029370
NM_030962.3(SBF2):c.2611-35AATC[6] rs202029370
NM_030962.3(SBF2):c.2619T>C (p.Ile873=)
NM_030962.3(SBF2):c.2850C>T (p.Ile950=) rs74642088
NM_030962.3(SBF2):c.3109C>T (p.Arg1037Cys)
NM_030962.3(SBF2):c.3111-6T>C rs16907139
NM_030962.3(SBF2):c.3127A>G (p.Ile1043Val) rs147438385
NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.3(SBF2):c.3316A>G (p.Met1106Val)
NM_030962.3(SBF2):c.3383G>A (p.Gly1128Asp)
NM_030962.3(SBF2):c.3386G>C (p.Ser1129Thr)
NM_030962.3(SBF2):c.3450C>T (p.Cys1150=) rs377608130

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