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_213674.1(TPM2):c.115-105A>G rs2145925
NM_213674.1(TPM2):c.121G>A (p.Glu41Lys) rs137853306
NM_213674.1(TPM2):c.142_144AAG[1] (p.Lys49del) rs199476147
NM_213674.1(TPM2):c.14_16AGA[2] (p.Lys7del) rs199476146
NM_213674.1(TPM2):c.154_156dup (p.Gly52dup) rs199476148
NM_213674.1(TPM2):c.240+2T>G rs113967290
NM_213674.1(TPM2):c.240+4_240+7del rs199476149
NM_213674.1(TPM2):c.240+5G>A rs199476150
NM_213674.1(TPM2):c.271C>G (p.Arg91Gly) rs104894127
NM_213674.1(TPM2):c.278A>G (p.Gln93Arg) rs199476151
NM_213674.1(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_213674.1(TPM2):c.397C>T (p.Arg133Trp) rs137853305
NM_213674.1(TPM2):c.398G>C (p.Arg133Pro) rs199476152
NM_213674.1(TPM2):c.412_414GAG[1] (p.Glu139del) rs199476153
NM_213674.1(TPM2):c.440A>C (p.Gln147Pro) rs104894128
NM_213674.1(TPM2):c.5A>T (p.Asp2Val) rs199476145
NM_213674.1(TPM2):c.640-193C>T rs199476154
NM_213674.1(TPM2):c.640-215C>G rs137853307
NM_213674.1(TPM2):c.651_653AGA[1] (p.Glu218del) rs199476156
NM_213674.1(TPM2):c.699G>T (p.Lys233Asn) rs1804558
NM_213674.1(TPM2):c.772+1002C>A rs199476157
NM_213674.1(TPM2):c.772+995dup rs35401252
NM_213674.1(TPM2):c.773-988G>A rs56249943

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