ClinVar Miner

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

Included ClinVar conditions (137):
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Gene type:
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Total variants: 23
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HGVS dbSNP
NM_030962.3(SBF2):c.1893C>T (p.Ala631=) rs760154688
NM_030962.3(SBF2):c.1965G>A (p.Thr655=) rs143732754
NM_030962.3(SBF2):c.1971A>G (p.Val657=) rs368639697
NM_030962.3(SBF2):c.2070A>G (p.Glu690=) rs201247796
NM_030962.3(SBF2):c.2109T>C (p.Leu703=)
NM_030962.3(SBF2):c.2160A>G (p.Gln720=) rs1247703447
NM_030962.3(SBF2):c.2178C>A (p.Thr726=) rs1590234812
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.2709A>C (p.Gly903=) rs140152705
NM_030962.3(SBF2):c.2807-8A>G rs762580844
NM_030962.3(SBF2):c.3036C>T (p.Thr1012=) rs111967328
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
NM_030962.3(SBF2):c.3450C>T (p.Cys1150=) rs377608130

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