List of variants reported as uncertain significance for hereditary skeletal muscle disorder by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	rs147136339	0.00108
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)	rs137932199	0.00073
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg)	rs147918857	0.00019
NM_000540.3(RYR1):c.9796A>C (p.Met3266Leu)	rs201588259	0.00016
NM_001458.5(FLNC):c.970-4A>G	rs532143625	0.00015
NM_000540.3(RYR1):c.9772G>A (p.Glu3258Lys)	rs754431075	0.00006
NM_001458.5(FLNC):c.1885C>T (p.Arg629Trp)	rs759376455	0.00006
NM_004320.6(ATP2A1):c.2441T>C (p.Leu814Pro)	rs746484055	0.00005
NM_000023.4(SGCA):c.307A>G (p.Ile103Val)	rs370819630	0.00003
NM_001100.4(ACTA1):c.389A>G (p.Asn130Ser)	rs766934634	0.00002
NM_001130987.2(DYSF):c.707G>A (p.Arg236Gln)	rs528386282	0.00002
NM_001267550.2(TTN):c.95434G>A (p.Gly31812Ser)	rs754416007	0.00002
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser)	rs781675126	0.00002
NM_000070.3(CAPN3):c.847A>G (p.Met283Val)	rs756786521	0.00001
NM_000540.3(RYR1):c.13484C>T (p.Pro4495Leu)	rs138929547	0.00001
NM_004006.3(DMD):c.2365G>A (p.Glu789Lys)	rs763844939	0.00001
NM_004006.3(DMD):c.7993A>G (p.Asn2665Asp)	rs767634310	0.00001
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His)	rs140510298	0.00001
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu)	rs563800854	0.00001
NM_201384.3(PLEC):c.12146C>T (p.Thr4049Met)	rs1277411906	0.00001
NM_000070.3(CAPN3):c.2440-75C>G	rs184526584
NM_000334.4(SCN4A):c.4527G>C (p.Lys1509Asn)
NM_000540.3(RYR1):c.1609G>A (p.Ala537Thr)	rs774229699
NM_000540.3(RYR1):c.6650G>A (p.Gly2217Asp)
NM_000540.3(RYR1):c.8773G>A (p.Glu2925Lys)	rs2145638522
NM_000540.3(RYR1):c.9970G>T (p.Val3324Phe)	rs761241693
NM_001040436.3(YARS2):c.7G>A (p.Ala3Thr)	rs772348768
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser)	rs200549195
NM_001458.5(FLNC):c.1131G>C (p.Lys377Asn)	rs1396483415
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly)	rs150200531
NM_007126.5(VCP):c.563C>T (p.Pro188Leu)
NM_015295.3(SMCHD1):c.3529G>T (p.Asp1177Tyr)	rs1568280995
NM_017739.4(POMGNT1):c.1212-3_1212-2del	rs1064797111
NM_031157.4(HNRNPA1):c.743G>A (p.Gly248Asp)

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