ClinVar Miner

List of variants reported as uncertain significance for childhood-onset nemaline myopathy by Baylor Genetics

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.9155G>A (p.Arg3052Gln) rs201176993 0.00238
NM_001164508.2(NEB):c.22800+9A>G rs144303545 0.00177
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser) rs143602832 0.00177
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00137
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00054
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys) rs184516994 0.00050
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315 0.00039
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr) rs142454476 0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg) rs201714437 0.00035
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly) rs183354017 0.00027
NM_001164508.2(NEB):c.9139C>A (p.His3047Asn) rs147168910 0.00022
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626 0.00016
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393 0.00014
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys) rs374606967 0.00010
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His) rs373589529 0.00010
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe) rs201028196 0.00009
NM_001164508.2(NEB):c.16625A>G (p.His5542Arg) rs773955783 0.00008
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His) rs755370356 0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473 0.00006
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys) rs771779312 0.00004
NM_001164508.2(NEB):c.5429C>T (p.Ala1810Val) rs752744680 0.00004
NM_001164508.2(NEB):c.6916-20T>C rs780933765 0.00004
NM_001164508.2(NEB):c.8683G>A (p.Asp2895Asn) rs779416595 0.00004
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys) rs755165133 0.00003
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln) rs749034995 0.00003
NM_001101362.3(KBTBD13):c.914G>A (p.Gly305Asp) rs2086998690 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.16814T>C (p.Val5605Ala) rs527672223 0.00001
NM_001164508.2(NEB):c.22906-6C>T rs1449487575 0.00001
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790 0.00001
NM_001164508.2(NEB):c.6767A>G (p.Asp2256Gly) rs373713314 0.00001
NM_001164508.2(NEB):c.7385C>G (p.Ala2462Gly) rs1377026295 0.00001
NM_001100.4(ACTA1):c.1127G>A (p.Cys376Tyr)
NM_001100.4(ACTA1):c.539T>C (p.Leu180Pro) rs1558081797
NM_001100.4(ACTA1):c.82G>C (p.Ala28Pro) rs546670743
NM_001101362.3(KBTBD13):c.175C>T (p.Arg59Cys) rs1406748219
NM_001164508.2(NEB):c.1031G>A (p.Ser344Asn) rs1224318643
NM_001164508.2(NEB):c.19903G>T (p.Asp6635Tyr) rs534519331
NM_001164508.2(NEB):c.23242-3C>G rs2075506324
NM_001164508.2(NEB):c.23835+20A>G rs2066191302
NM_001164508.2(NEB):c.24788G>A (p.Arg8263Gln) rs745615279
NM_001164508.2(NEB):c.8660G>A (p.Arg2887Gln) rs781688981
NM_001164508.2(NEB):c.9278T>C (p.Leu3093Pro) rs2098711068
NM_003289.4(TPM2):c.773-5C>G rs1230541017
NM_006063.3(KLHL41):c.176G>C (p.Arg59Pro) rs759521852
NM_152263.4(TPM3):c.262T>C (p.Ser88Pro) rs1558052214
NM_152263.4(TPM3):c.854+1G>A rs113367027

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