ClinVar Miner

List of variants reported as likely benign for childhood-onset nemaline myopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.195G>A (p.Pro65=) rs79524813 0.01367
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814 0.01071
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164 0.00935
NM_152263.4(TPM3):c.*4062G>A rs140590273 0.00864
NM_001164508.2(NEB):c.6159G>A (p.Lys2053=) rs140186806 0.00856
NM_152263.4(TPM3):c.*5149G>A rs78002555 0.00816
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_001164508.2(NEB):c.2832C>T (p.Ser944=) rs114076205 0.00714
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429 0.00596
NM_152263.4(TPM3):c.*4154C>T rs145053113 0.00572
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796 0.00550
NM_001164508.2(NEB):c.5802C>T (p.Gly1934=) rs139963368 0.00547
NM_001164508.2(NEB):c.17049G>T (p.Ala5683=) rs140688592 0.00517
NM_152263.4(TPM3):c.*3497T>C rs144544045 0.00465
NM_001164508.2(NEB):c.1856A>G (p.Lys619Arg) rs147305883 0.00426
NM_001164508.2(NEB):c.1981C>T (p.Leu661=) rs146460133 0.00395
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567 0.00393
NM_001164508.2(NEB):c.1413C>T (p.Phe471=) rs112958786 0.00363
NM_001164508.2(NEB):c.612+15C>T rs112288851 0.00360
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_001164508.2(NEB):c.1257+13A>T rs75320668 0.00345
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=) rs144376972 0.00333
NM_001164508.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609 0.00327
NM_152263.4(TPM3):c.*878A>G rs116789181 0.00321
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692 0.00320
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878 0.00292
NM_152263.4(TPM3):c.*780A>G rs185779007 0.00287
NM_001164508.2(NEB):c.5032-15T>C rs201180226 0.00277
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654 0.00257
NM_001164508.2(NEB):c.20682+13G>A rs189918704 0.00244
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_001164508.2(NEB):c.22050+13C>T rs113403461 0.00197
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_152263.4(TPM3):c.*4876C>T rs141628385 0.00178
NM_001164508.2(NEB):c.18464A>C (p.Tyr6155Ser) rs201971223 0.00162
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_001164508.2(NEB):c.21419T>C (p.Ile7140Thr) rs200112795 0.00077
NM_001164508.2(NEB):c.2524-15G>T rs151206071 0.00059
NM_001164508.2(NEB):c.8499G>A (p.Lys2833=) rs183998406 0.00058
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His) rs147159176 0.00034
NM_152263.4(TPM3):c.*2138T>C rs566002553 0.00031
NM_001100.4(ACTA1):c.549G>A (p.Ala183=) rs200094415 0.00027
NM_001164508.2(NEB):c.2343G>A (p.Lys781=) rs191610670 0.00023
NM_152263.4(TPM3):c.*5701C>T rs373631033 0.00018
NM_001101362.3(KBTBD13):c.*41C>T rs185053492 0.00016
NM_001101362.3(KBTBD13):c.729C>G (p.Ser243Arg) rs767990371 0.00016
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg) rs200719359 0.00014
NM_003289.4(TPM2):c.*25A>C rs781513152 0.00012
NM_001164508.2(NEB):c.20893-11T>C rs201173663 0.00009
NM_001101362.3(KBTBD13):c.*699G>A rs142860231 0.00007
NM_003289.4(TPM2):c.-10C>A rs372751531 0.00006
NM_001101362.3(KBTBD13):c.921C>T (p.Leu307=) rs773691737 0.00003
NM_001101362.3(KBTBD13):c.1010G>A (p.Arg337Gln) rs771413223 0.00001
NM_001164508.2(NEB):c.20089G>A (p.Gly6697Arg) rs201071685 0.00001
NM_003289.4(TPM2):c.558C>T (p.Ala186=) rs746177794 0.00001
NM_003289.4(TPM2):c.564-9C>T rs763429317 0.00001
NM_152263.4(TPM3):c.*4940C>G rs562373211 0.00001
NM_001101362.3(KBTBD13):c.1101C>T (p.Cys367=) rs543844534
NM_001101362.3(KBTBD13):c.342C>A (p.Ala114=) rs538410855
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_152263.4(TPM3):c.*1130C>T rs143058197

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