ClinVar Miner

List of variants in gene combination LOC126806373, NEB reported as likely benign for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
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Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=) rs190336010 0.00140
NM_001164508.2(NEB):c.19482C>T (p.Pro6494=) rs200333206 0.00019
NM_001164508.2(NEB):c.19429-20A>G rs372241831 0.00011
NM_001164508.2(NEB):c.19477G>A (p.Val6493Met) rs1233717326 0.00006
NM_001164508.2(NEB):c.19535T>C (p.Ile6512Thr) rs751483486 0.00006
NM_001164508.2(NEB):c.19557C>T (p.His6519=) rs371785128 0.00006
NM_001164508.2(NEB):c.19576G>A (p.Asp6526Asn) rs201731351 0.00006
NM_001164508.2(NEB):c.19476C>T (p.Ile6492=) rs113068669 0.00004
NM_001164508.2(NEB):c.19626+14_19626+15del rs537345128 0.00004
NM_001164508.2(NEB):c.19543C>T (p.Arg6515Cys) rs765363585 0.00002
NM_001164508.2(NEB):c.19544G>A (p.Arg6515His) rs757278862 0.00002
NM_001164508.2(NEB):c.19596C>T (p.His6532=) rs1182429085 0.00002
NM_001164508.2(NEB):c.19621A>C (p.Ser6541Arg) rs779842159 0.00002
NM_001164508.2(NEB):c.19429-5T>C rs758585933 0.00001
NM_001164508.2(NEB):c.19449T>C (p.Tyr6483=) rs2095483992 0.00001
NM_001164508.2(NEB):c.19572C>T (p.His6524=) rs367646560 0.00001
NM_001164508.2(NEB):c.19575C>T (p.Pro6525=) rs1361349634 0.00001
NM_001164508.2(NEB):c.19597G>A (p.Val6533Ile) rs368484176 0.00001
NM_001164508.2(NEB):c.19613A>T (p.Asp6538Val) rs747034126 0.00001
NM_001164508.2(NEB):c.19626+9G>T rs1293079263 0.00001
NM_001164508.2(NEB):c.19627-8C>T rs1381633722 0.00001
NM_001164508.2(NEB):c.19429-18G>A
NM_001164508.2(NEB):c.19429-20A>T
NM_001164508.2(NEB):c.19429-7T>C rs561767644
NM_001164508.2(NEB):c.19431C>A (p.Arg6477=) rs991196845
NM_001164508.2(NEB):c.19431C>G (p.Arg6477=) rs991196845
NM_001164508.2(NEB):c.19434G>A (p.Leu6478=)
NM_001164508.2(NEB):c.19436A>G (p.Tyr6479Cys)
NM_001164508.2(NEB):c.19443A>G (p.Ser6481=)
NM_001164508.2(NEB):c.19470C>A (p.Ile6490=)
NM_001164508.2(NEB):c.19470C>T (p.Ile6490=)
NM_001164508.2(NEB):c.19479G>A (p.Val6493=) rs1371784327
NM_001164508.2(NEB):c.19482C>G (p.Pro6494=)
NM_001164508.2(NEB):c.19491A>T (p.Val6497=)
NM_001164508.2(NEB):c.19494G>A (p.Glu6498=) rs2153660479
NM_001164508.2(NEB):c.19496T>C (p.Met6499Thr)
NM_001164508.2(NEB):c.19506C>T (p.Ala6502=) rs1011926091
NM_001164508.2(NEB):c.19511A>T (p.Asp6504Val)
NM_001164508.2(NEB):c.19530T>C (p.Ser6510=) rs1205003159
NM_001164508.2(NEB):c.19542C>T (p.Tyr6514=)
NM_001164508.2(NEB):c.19546C>T (p.Leu6516=)
NM_001164508.2(NEB):c.19548G>A (p.Leu6516=) rs2153660221
NM_001164508.2(NEB):c.19549C>T (p.Arg6517Cys)
NM_001164508.2(NEB):c.19566T>C (p.Ile6522=)
NM_001164508.2(NEB):c.19569C>T (p.Cys6523=) rs1577263927
NM_001164508.2(NEB):c.19579T>C (p.Leu6527=) rs2153660059
NM_001164508.2(NEB):c.19581G>A (p.Leu6527=) rs371019748
NM_001164508.2(NEB):c.19599C>G (p.Val6533=)
NM_001164508.2(NEB):c.19604A>G (p.Lys6535Arg)
NM_001164508.2(NEB):c.19608C>T (p.Val6536=) rs1483543704
NM_001164508.2(NEB):c.19620C>T (p.Ile6540=) rs2153659870
NM_001164508.2(NEB):c.19623C>T (p.Ser6541=) rs2095477737
NM_001164508.2(NEB):c.19626+10T>C rs2153659730
NM_001164508.2(NEB):c.19626+13C>T
NM_001164508.2(NEB):c.19626+7C>T
NM_001164508.2(NEB):c.19627-15A>G
NM_001164508.2(NEB):c.19627-19T>A rs2153658052
NM_001164508.2(NEB):c.19627-4C>G
NM_001164508.2(NEB):c.19627-7C>T
NM_001164508.2(NEB):c.19627-9A>T
NM_001164508.2(NEB):c.19629T>C (p.Ile6543=) rs2153657821
NM_001164508.2(NEB):c.19632A>G (p.Val6544=) rs2095452627

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