ClinVar Miner

List of variants studied for congenital myopathy by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001256545.2(MEGF10):c.*3847G>T rs539314216 0.00001
NM_000257.4(MYH7):c.5173_5175del (p.Asn1725del)
NM_000540.3(RYR1):c.10868T>G (p.Leu3623Arg)
NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys) rs951875086
NM_001164508.2(NEB):c.22639A>G (p.Met7547Val)
NM_001267550.2(TTN):c.46945T>G (p.Phe15649Val)
NM_001267550.2(TTN):c.48160+1G>A rs779498825
NM_001267550.2(TTN):c.99412G>C (p.Gly33138Arg)
NM_001849.4(COL6A2):c.955-2A>C rs1555873084
NM_001953.5(TYMP):c.86dup (p.Ser30fs)
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)
NM_003283.6(TNNT1):c.272_281del (p.Lys91fs)
NM_004369.4(COL6A3):c.6283-2A>G rs797044988
NM_017534.6(MYH2):c.4204C>T (p.Arg1402Trp)

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