List of variants reported as uncertain significance for hereditary skeletal muscle disorder by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 30

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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_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_025152.3(NUBPL):c.349A>G (p.Met117Val)	rs773620793
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg)	rs886043878

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