ClinVar Miner

List of variants studied for neuromuscular junction disease by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001368882.1(COL13A1):c.1756C>T (p.Pro586Ser) rs532274334 0.00012
NM_198576.4(AGRN):c.5410G>A (p.Val1804Met) rs754158999 0.00003
NM_198576.4(AGRN):c.5645C>T (p.Thr1882Ile) rs540580770 0.00003
NM_005677.4(COLQ):c.680G>A (p.Arg227Gln) rs764737302 0.00002
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His) rs189717232 0.00001
NM_000079.4(CHRNA1):c.1003G>T (p.Val335Phe)
NM_000079.4(CHRNA1):c.298A>T (p.Ile100Phe) rs752761320
NM_000079.4(CHRNA1):c.376A>G (p.Thr126Ala)
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000080.4(CHRNE):c.583G>T (p.Asp195Tyr) rs774425374
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000747.3(CHRNB1):c.353+1del
NM_000747.3(CHRNB1):c.442C>T (p.Arg148Cys)
NM_000751.3(CHRND):c.1107del (p.Ser370fs)
NM_001244710.2(GFPT1):c.134G>A (p.Gly45Asp)
NM_001368882.1(COL13A1):c.457G>T (p.Glu153Ter)
NM_005592.4(MUSK):c.1742T>A (p.Ile581Asn)
NM_005677.4(COLQ):c.955-2A>C
NM_006901.4(MYO9A):c.4807G>A (p.Val1603Met)
NM_006901.4(MYO9A):c.6416G>A (p.Arg2139Gln)
NM_020549.5(CHAT):c.1958T>C (p.Phe653Ser)
NM_020549.5(CHAT):c.461T>G (p.Val154Gly)
NM_020549.5(CHAT):c.526G>A (p.Gly176Ser)
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
NM_173660.5(DOK7):c.956C>A (p.Pro319His) rs376334067
NM_198576.4(AGRN):c.1555G>T (p.Ala519Ser)
NM_198576.4(AGRN):c.1862C>T (p.Pro621Leu) rs1303230782
NM_198576.4(AGRN):c.2509G>A (p.Val837Ile)
NM_198576.4(AGRN):c.3004G>C (p.Gly1002Arg) rs757677789
NM_198576.4(AGRN):c.5132C>A (p.Ala1711Glu)

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