ClinVar Miner

List of variants studied for TPM3-related myopathy by GeneReviews

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del) rs367543052
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp) rs367543053
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr) rs118192117
NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter) rs143849895
NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter) rs367543055
NM_000540.3(RYR1):c.6104A>T (p.His2035Leu) rs367543056
NM_000540.3(RYR1):c.738T>G (p.Tyr246Ter) rs367543054
NM_000540.3(RYR1):c.9000+1G>T rs111364670
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys) rs367543057
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser) rs121909531
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp) rs367543049
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys) rs367543048
NM_001100.4(ACTA1):c.621G>C (p.Glu207Asp) rs367543050
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys) rs367543051
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val) rs121909529
NM_152263.4(TPM3):c.11C>T (p.Ala4Val) rs199474711
NM_152263.4(TPM3):c.26T>G (p.Met9Arg) rs80358247
NM_152263.4(TPM3):c.272G>C (p.Arg91Pro) rs199474713
NM_152263.4(TPM3):c.298C>A (p.Leu100Met) rs121964853
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.505A>G (p.Lys169Glu) rs199474715
NM_152263.4(TPM3):c.721G>A (p.Glu241Lys) rs199474717
NM_152263.4(TPM3):c.733A>G (p.Arg245Gly) rs199474718
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) rs80358248

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