ClinVar Miner

List of variants in gene TPM2 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_003289.4(TPM2):c.*8G>A rs56249943 0.06243
NM_003289.4(TPM2):c.726C>T (p.Ala242=) rs76414035 0.00045
NM_003289.4(TPM2):c.536C>T (p.Ser179Leu) rs150120234 0.00017
NM_003289.4(TPM2):c.241-7C>A rs759898332 0.00003
NM_003289.4(TPM2):c.*7C>T rs79882576
NM_003289.4(TPM2):c.279G>T (p.Gln93His) rs727504180
NM_003289.4(TPM2):c.300C>T (p.Asp100=) rs532190742
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_003289.4(TPM2):c.36G>A (p.Lys12=) rs794726907
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp) rs137853305
NM_003289.4(TPM2):c.493-11_493-8del rs528068364
NM_003289.4(TPM2):c.564-19dup rs3215700
NM_003289.4(TPM2):c.773-3del rs35401252
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_003289.4(TPM2):c.773-4_773-3dup rs35401252
NM_003289.4(TPM2):c.81C>T (p.Ala27=) rs564977715

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