ClinVar Miner

List of variants reported as pathogenic by Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_005677.4(COLQ):c.1196G>A (p.Arg399His) rs375272767 0.00001
NM_005677.4(COLQ):c.679C>T (p.Arg227Ter) rs770045897 0.00001
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter) rs121908924 0.00001
NM_020376.4(PNPLA2):c.613dup (p.Leu205fs) rs796065308 0.00001
NM_000018.4(ACADVL):c.911C>T (p.Ala304Val) rs1473375424
NM_000018.4(ACADVL):c.[1310T>C;869del]
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs) rs1597613479
NM_000080.4(CHRNE):c.916A>G (p.Arg306Gly) rs1969955431
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_001386125.1(OBSCN):c.24822C>A (p.Tyr8274Ter)
NM_001386125.1(OBSCN):c.2653+1G>C
NM_005677.4(COLQ):c.1026C>G (p.Asp342Glu) rs758554049
NM_005677.4(COLQ):c.1277C>T (p.Thr426Ile) rs536042715
NM_005677.4(COLQ):c.815G>A (p.Gly272Glu)
NM_005677.4:c.188_321del
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr) rs121912823
NM_024577.4(SH3TC2):c.233_239del (p.Leu78fs) rs2127402263
NM_033087.4(ALG2):c.215_225del (p.Gly72fs) rs1828806340
NM_058246.4(DNAJB6):c.273C>G (p.Phe91Leu) rs759982570
NM_181705.4(LYRM7):c.245-1G>A

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