ClinVar Miner

List of variants reported as likely pathogenic for cap myopathy

Included ClinVar conditions (2):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NM_152263.4(TPM3):c.137C>T (p.Ala46Val)
NM_152263.4(TPM3):c.271C>G (p.Arg91Gly) rs1571418855
NM_152263.4(TPM3):c.272G>A (p.Arg91His)
NM_152263.4(TPM3):c.298C>G (p.Leu100Val) rs121964853
NM_152263.4(TPM3):c.43G>A (p.Asp15Asn) rs1553251644
NM_152263.4(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_152263.4(TPM3):c.44A>T (p.Asp15Val) rs2148295444
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
NM_152263.4(TPM3):c.7G>C (p.Glu3Gln) rs1571456678

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