ClinVar Miner

List of variants in gene SH3TC2 studied for Distal spinal muscular atrophy

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Total variants: 4
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NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.3(SH3TC2):c.1654G>C (p.Glu552Gln) rs551953142
NM_024577.3(SH3TC2):c.2578C>T (p.Leu860Phe) rs139958177

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