ClinVar Miner

List of variants in gene SH3TC2 reported as uncertain significance for Charcot-Marie-Tooth disease, type I

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro) rs77636085 0.00075
NM_024577.4(SH3TC2):c.529+1G>A rs769410348 0.00001
NM_024577.4(SH3TC2):c.*861dup rs5872107
NM_024577.4(SH3TC2):c.1002-8del rs1580903964
NM_024577.4(SH3TC2):c.2015del (p.Val672fs) rs1580900610
NM_024577.4(SH3TC2):c.2696T>C (p.Leu899Pro) rs112337746
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs) rs1222150652

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