ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro) rs199742668 0.00240
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu) rs143194967 0.00031
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp) rs200865845 0.00011
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His) rs376019368 0.00003
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) rs777327250 0.00001
NM_001267550.2(TTN):c.32471-1G>A rs371725574 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_013382.7(POMT2):c.311A>T (p.Asp104Val) rs1891449262 0.00001
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) rs2068606445
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
NM_000426.4(LAMA2):c.2054T>C (p.Leu685Pro) rs746641607
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val) rs121909529
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.28174+1G>T rs1577824925
NM_001267550.2(TTN):c.28462+1G>T rs2076520917
NM_001267550.2(TTN):c.55732+5G>C rs878854377
NM_001377299.1(NDUFS2):c.703-11T>G rs770054202
NM_001849.4(COL6A2):c.2422+1G>A rs113828929
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter) rs765023287
NM_004370.6(COL12A1):c.756dup (p.Ser253fs) rs1582208315
NM_005138.3(SCO2):c.2T>C (p.Met1Thr) rs1603441682
NM_005876.5(SPEG):c.9028_9030del (p.Glu3010del) rs1575202038
NM_020451.3(SELENON):c.455G>T (p.Ser152Ile) rs762382665
NM_021942.6(TRAPPC11):c.1208-5C>G rs185570336
NM_021942.6(TRAPPC11):c.464C>T (p.Ser155Leu) rs868721699
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.1364C>T (p.Ala455Val) rs28937903
NM_031229.4(RBCK1):c.461-2A>G rs2016220601
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter) rs556752387
NM_032608.7(MYO18B):c.969AAG[1] (p.Arg325del) rs1601634468
NM_138638.5(CFL2):c.338del (p.Ser113fs) rs1594784544

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