ClinVar Miner

List of variants studied for congenital myopathy by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315 0.00039
NM_000183.3(HADHB):c.565G>A (p.Ala189Thr) rs143683481 0.00031
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762 0.00016
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser) rs200200671 0.00016
NM_001164508.2(NEB):c.22429G>A (p.Gly7477Ser) rs764674361 0.00003
NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys) rs777802711 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu) rs755589190 0.00001
NM_032608.7(MYO18B):c.988G>A (p.Gly330Ser) rs764491130 0.00001
NM_000540.3(RYR1):c.6272C>A (p.Pro2091His) rs1555781055
NM_001005361.3(DNM2):c.197G>A (p.Arg66Gln) rs1568283807
NM_001164508.2(NEB):c.1316A>G (p.Glu439Gly) rs1553608272
NM_001164508.2(NEB):c.20711A>G (p.Glu6904Gly) rs886054930
NM_001267550.2(TTN):c.23587T>C (p.Ser7863Pro) rs1553906488
NM_001267550.2(TTN):c.31462G>A (p.Glu10488Lys) rs1553860513
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg) rs886043878

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