ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg) rs144158112 0.00068
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_002206.3(ITGA7):c.3287C>T (p.Thr1096Met) rs200485048 0.00019
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_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691 0.00015
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile) rs141953092 0.00005
NM_201384.3(PLEC):c.11161C>T (p.Arg3721Cys) rs782134827 0.00005
NM_173660.5(DOK7):c.308G>A (p.Arg103Gln) rs377554325 0.00004
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_005198.5(CHKB):c.642G>T (p.Glu214Asp) rs761029141 0.00001
NM_032608.7(MYO18B):c.988G>A (p.Gly330Ser) rs764491130 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_000426.4(LAMA2):c.7390_7391delinsTT (p.Ala2464Leu) rs1554303509
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_001231.5(CASQ1):c.837T>G (p.Asp279Glu) rs1553192858
NM_001267550.2(TTN):c.23587T>C (p.Ser7863Pro) rs1553906488
NM_001267550.2(TTN):c.31462G>A (p.Glu10488Lys) rs1553860513
NM_018684.4(ZC4H2):c.427C>T (p.Gln143Ter) rs1260869746
NM_025152.3(NUBPL):c.349A>G (p.Met117Val) rs773620793
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg) rs886043878

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