ClinVar Miner

List of variants reported as uncertain significance for Nemaline myopathy 7

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_138638.5(CFL2):c.*1036G>A rs150492527 0.00379
NM_138638.5(CFL2):c.*1507C>T rs139087926 0.00118
NM_138638.5(CFL2):c.*541A>G rs144345993 0.00091
NM_138638.5(CFL2):c.*1759A>G rs539503694 0.00061
NM_138638.5(CFL2):c.*281A>G rs761508275 0.00047
NM_138638.5(CFL2):c.*738A>G rs188669360 0.00034
NM_138638.5(CFL2):c.*1810T>A rs763550520 0.00027
NM_138638.5(CFL2):c.*995T>C rs749572493 0.00026
NM_138638.5(CFL2):c.169G>A (p.Val57Met) rs200536303 0.00026
NM_138638.5(CFL2):c.4-198A>G rs143465827 0.00016
NM_138638.5(CFL2):c.*2284C>T rs372609152 0.00014
NM_138638.5(CFL2):c.*473A>G rs916389634 0.00014
NM_138638.5(CFL2):c.*718A>G rs886050474 0.00010
NM_138638.5(CFL2):c.355A>T (p.Ser119Cys) rs1353965924 0.00010
NM_138638.5(CFL2):c.*1885C>T rs775859581 0.00006
NM_138638.5(CFL2):c.*293G>A rs774843860 0.00006
NM_138638.5(CFL2):c.*1620T>C rs943154114 0.00004
NM_138638.5(CFL2):c.93G>C (p.Lys31Asn) rs757341071 0.00004
NM_138638.5(CFL2):c.*1886G>A rs544351937 0.00002
NM_138638.5(CFL2):c.*720A>T rs771461390 0.00002
NM_138638.5(CFL2):c.*1070G>A rs767101584 0.00001
NM_138638.5(CFL2):c.*2248G>A rs1315039573 0.00001
NM_138638.5(CFL2):c.17C>G (p.Thr6Arg) rs758040099 0.00001
NM_138638.5(CFL2):c.4-172C>T rs190226324 0.00001
NM_138638.5(CFL2):c.73A>G (p.Thr25Ala) rs1004680147 0.00001
NC_000014.8:g.(?_35182051)_(35183766_?)dup
NC_000014.9:g.(?_34710372)_(34713686_?)dup
NM_138638.5(CFL2):c.*1030C>G rs1885306504
NM_138638.5(CFL2):c.*2340T>G rs886050473
NM_138638.5(CFL2):c.*362G>A rs553554454
NM_138638.5(CFL2):c.114C>A (p.Phe38Leu)
NM_138638.5(CFL2):c.116G>A (p.Cys39Tyr)
NM_138638.5(CFL2):c.127G>A (p.Asp43Asn) rs2138474697
NM_138638.5(CFL2):c.151G>A (p.Glu51Lys) rs1885385349
NM_138638.5(CFL2):c.176A>G (p.Asp59Gly)
NM_138638.5(CFL2):c.19G>A (p.Val7Met) rs397515451
NM_138638.5(CFL2):c.203A>G (p.Tyr68Cys) rs1885382343
NM_138638.5(CFL2):c.22A>G (p.Asn8Asp) rs2138475009
NM_138638.5(CFL2):c.230T>G (p.Leu77Arg)
NM_138638.5(CFL2):c.242G>A (p.Arg81Gln) rs1885381246
NM_138638.5(CFL2):c.24TGA[1] (p.Asp9del) rs1268123385
NM_138638.5(CFL2):c.256G>A (p.Asp86Asn)
NM_138638.5(CFL2):c.25_26delinsAT (p.Asp9Ile)
NM_138638.5(CFL2):c.268G>A (p.Glu90Lys) rs879148457
NM_138638.5(CFL2):c.276A>C (p.Lys92Asn) rs1468647166
NM_138638.5(CFL2):c.301T>C (p.Phe101Leu)
NM_138638.5(CFL2):c.304A>G (p.Ile102Val) rs2138474233
NM_138638.5(CFL2):c.312-3T>G rs1885369430
NM_138638.5(CFL2):c.316C>A (p.Pro106Thr) rs770605729
NM_138638.5(CFL2):c.327A>G (p.Ala109=)
NM_138638.5(CFL2):c.328C>T (p.Pro110Ser) rs1594784547
NM_138638.5(CFL2):c.349del (p.Tyr117fs) rs1885368186
NM_138638.5(CFL2):c.353C>G (p.Ala118Gly) rs865927835
NM_138638.5(CFL2):c.388G>C (p.Gly130Arg) rs1566525113
NM_138638.5(CFL2):c.38A>G (p.Lys13Arg)
NM_138638.5(CFL2):c.452A>G (p.Glu151Gly) rs2138473087
NM_138638.5(CFL2):c.457T>G (p.Leu153Val) rs587780312
NM_138638.5(CFL2):c.467A>G (p.Asn156Ser) rs2138473058
NM_138638.5(CFL2):c.469G>A (p.Val157Ile)
NM_138638.5(CFL2):c.471AGT[1] (p.Val159del) rs1594784265
NM_138638.5(CFL2):c.475G>T (p.Val159Phe) rs1885356615
NM_138638.5(CFL2):c.497T>C (p.Leu166Ser)
NM_138638.5(CFL2):c.500A>G (p.Ter167=)
NM_138638.5(CFL2):c.51T>A (p.Asp17Glu)
NM_138638.5(CFL2):c.54G>A (p.Met18Ile) rs1594784960
NM_138638.5(CFL2):c.55A>G (p.Lys19Glu)
NM_138638.5(CFL2):c.67TCT[1] (p.Ser24del)
NM_138638.5(CFL2):c.70T>G (p.Ser24Ala)
NM_138638.5(CFL2):c.76C>G (p.Gln26Glu) rs1885389290
NM_138638.5(CFL2):c.78_80del (p.Glu28del) rs751972348
NM_138638.5(CFL2):c.97A>C (p.Lys33Gln)

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