ClinVar Miner

List of variants in gene combination LOC101928008, SBF2 reported as likely benign for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_030962.3(SBF2):c.1893C>T (p.Ala631=) rs760154688
NM_030962.3(SBF2):c.1930-10G>T rs765561519
NM_030962.3(SBF2):c.2035G>A (p.Glu679Lys) rs7102464
NM_030962.3(SBF2):c.2160A>G (p.Gln720=) rs1247703447
NM_030962.3(SBF2):c.2319G>A (p.Ala773=) rs201547070
NM_030962.3(SBF2):c.2611-19_2611-16delAATC rs202029370
NM_030962.3(SBF2):c.2850C>T (p.Ile950=) rs74642088
NM_030962.3(SBF2):c.3111-6T>C rs16907139
NM_030962.3(SBF2):c.3135A>G (p.Lys1045=) rs1554920965
NM_030962.3(SBF2):c.3257-10A>T rs1348371983
NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) rs117957652

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