ClinVar Miner

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

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Total variants: 7
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NM_030962.3(SBF2):c.1967G>C (p.Cys656Ser) rs138120231
NM_030962.3(SBF2):c.3109C>T (p.Arg1037Cys)
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.3316A>G (p.Met1106Val)
NM_030962.3(SBF2):c.3383G>A (p.Gly1128Asp)
NM_030962.3(SBF2):c.3386G>C (p.Ser1129Thr)

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