ClinVar Miner

List of variants reported as not provided by TPM2 homepage - Leiden Muscular Dystrophy pages

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Total variants: 23
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HGVS dbSNP
NM_003289.3(TPM2):c.*8G>A rs56249943
NM_003289.3(TPM2):c.115-105A>G rs2145925
NM_003289.3(TPM2):c.121G>A (p.Glu41Lys) rs137853306
NM_003289.3(TPM2):c.145_147delAAG (p.Lys49del) rs199476147
NM_003289.3(TPM2):c.154_156dup (p.Gly52_Thr53insGly) rs199476148
NM_003289.3(TPM2):c.20_22delAGA (p.Lys7del) rs199476146
NM_003289.3(TPM2):c.240+2T>G rs113967290
NM_003289.3(TPM2):c.240+4_240+7del rs199476149
NM_003289.3(TPM2):c.240+5G>A rs199476150
NM_003289.3(TPM2):c.271C>G (p.Arg91Gly) rs104894127
NM_003289.3(TPM2):c.278A>G (p.Gln93Arg) rs199476151
NM_003289.3(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_003289.3(TPM2):c.397C>T (p.Arg133Trp) rs137853305
NM_003289.3(TPM2):c.398G>C (p.Arg133Pro) rs199476152
NM_003289.3(TPM2):c.415_417delGAG (p.Glu139del) rs199476153
NM_003289.3(TPM2):c.440A>C (p.Gln147Pro) rs104894128
NM_003289.3(TPM2):c.5A>T (p.Asp2Val) rs199476145
NM_003289.3(TPM2):c.606C>G (p.Asn202Lys) rs137853307
NM_003289.3(TPM2):c.628C>T (p.Gln210Ter) rs199476154
NM_003289.3(TPM2):c.654_656del (p.Glu218del) rs199476156
NM_003289.3(TPM2):c.699G>T (p.Lys233Asn) rs1804558
NM_003289.3(TPM2):c.773-3C>A rs199476157
NM_003289.3(TPM2):c.773-3dupC rs35401252

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