ClinVar Miner

List of variants studied for neuromuscular junction disease by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser) rs55826142 0.00116
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_198576.4(AGRN):c.3569G>A (p.Arg1190His) rs149762107 0.00006
NM_000747.3(CHRNB1):c.516C>G (p.Tyr172Ter) rs201033437 0.00004
NM_005592.4(MUSK):c.1360G>A (p.Asp454Asn) rs202239254 0.00001
NM_198576.4(AGRN):c.4799C>T (p.Ala1600Val) rs370833536 0.00001
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_005592.4(MUSK):c.1874G>A (p.Arg625Lys) rs2077900685
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128

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