ClinVar Miner

List of variants reported as uncertain significance for congenital myopathy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_032608.7(MYO18B):c.7345C>T (p.Arg2449Trp) rs149103381 0.00446
NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys) rs139626312 0.00311
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys) rs547608972 0.00026
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp) rs779079128 0.00013
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu) rs376076241 0.00012
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser) rs376489385 0.00009
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) rs753858440 0.00009
NM_078470.6(COX15):c.532C>T (p.Arg178Cys) rs192078749 0.00008
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met) rs769795690 0.00006
NM_001256545.2(MEGF10):c.2330G>A (p.Arg777His) rs565304206 0.00005
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr) rs369100772 0.00005
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys) rs749760185 0.00005
NM_017534.6(MYH2):c.3821G>A (p.Arg1274Gln) rs756811670 0.00005
NM_032608.7(MYO18B):c.4058G>A (p.Arg1353His) rs532777099 0.00005
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr) rs1235556906 0.00003
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277 0.00003
NM_001101362.3(KBTBD13):c.543C>G (p.Asp181Glu) rs760224608 0.00002
NM_001164508.2(NEB):c.9125G>A (p.Cys3042Tyr) rs779603526 0.00002
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del) rs754586219 0.00002
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His) rs775496863 0.00001
NM_001267550.2(TTN):c.57970C>T (p.Arg19324Trp) rs1203435642 0.00001
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser) rs745485695 0.00001
NM_002693.3(POLG):c.13C>T (p.Leu5Phe) rs761648850 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile) rs755052076 0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814 0.00001
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser) rs766458058 0.00001
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051 0.00001
NM_152393.4(KLHL40):c.1396G>A (p.Val466Ile) rs773720799 0.00001
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser) rs138966725
NM_000183.3(HADHB):c.694G>A (p.Ala232Thr) rs987203346
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys) rs1569565536
NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile) rs1555793251
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del) rs1438501767
NM_001101362.3(KBTBD13):c.1026T>G (p.Tyr342Ter) rs760601340
NM_001164508.2(NEB):c.6127A>G (p.Arg2043Gly) rs1321911647
NM_001164508.2(NEB):c.9619C>T (p.Arg3207Cys) rs200351671
NM_001164508.2(NEB):c.9631G>A (p.Glu3211Lys) rs757944456
NM_001267550.2(TTN):c.106925G>A (p.Gly35642Asp) rs1553480410
NM_001267550.2(TTN):c.23633A>T (p.Glu7878Val) rs1553906392
NM_001267550.2(TTN):c.31643C>T (p.Pro10548Leu) rs753460621
NM_001267550.2(TTN):c.39379+2T>G rs1560102141
NM_001267550.2(TTN):c.94906G>A (p.Asp31636Asn) rs776793953
NM_001378030.1(CCDC78):c.436-7C>G rs1567323012
NM_001458.5(FLNC):c.1199T>C (p.Ile400Thr) rs1562992604
NM_001458.5(FLNC):c.904A>G (p.Thr302Ala) rs1410531577
NM_001849.4(COL6A2):c.148G>A (p.Val50Met) rs727502826
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly) rs1568940242
NM_024854.5(PYROXD1):c.1004_1006del (p.Gly335del) rs1565554407
NM_080916.3(DGUOK):c.155C>G (p.Ser52Cys) rs1204316787
NM_145064.3(STAC3):c.560T>A (p.Met187Lys) rs1461373398
NM_213674.1(TPM2):c.826C>G (p.Gln276Glu) rs376668943

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