ClinVar Miner

List of variants in gene DNM2, LOC130063529, MIR638 studied for Charcot-Marie-Tooth disease dominant intermediate B

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.161+15C>G rs778544871 0.00003
NM_001005361.3(DNM2):c.161+6C>T rs2068821980 0.00001
NM_001005361.3(DNM2):c.161+11G>A
NM_001005361.3(DNM2):c.161+12_161+29dup rs750378486
NM_001005361.3(DNM2):c.161+14G>A rs2512931917
NM_001005361.3(DNM2):c.161+3G>A rs1555696272
NM_001005361.3(DNM2):c.161+7G>T rs2145638077

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