ClinVar Miner

List of variants reported as likely pathogenic for Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_005592.4(MUSK):c.920+1G>A rs1220602405 0.00002
NM_005592.4(MUSK):c.1184+2T>C rs532285449 0.00001
NM_005592.4(MUSK):c.206+2T>C rs2076149627 0.00001
NC_000009.11:g.(?_113431213)_(113441760_?)del
NC_000009.11:g.(?_113457663)_(113524508_?)dup
NC_000009.11:g.(?_113496521)_(113524498_?)dup
NC_000009.11:g.(?_113547866)_(113548336_?)del
NM_005592.4(MUSK):c.1091_1092del (p.Pro364fs) rs2491048992
NM_005592.4(MUSK):c.114T>A (p.Asp38Glu) rs775587809
NM_005592.4(MUSK):c.1185-2A>G rs2491096235
NM_005592.4(MUSK):c.1360+1G>A rs2491098868
NM_005592.4(MUSK):c.1586+1G>A rs2491148034
NM_005592.4(MUSK):c.1778+1G>T rs2132026515
NM_005592.4(MUSK):c.2036_2039del (p.Ser679fs)
NM_005592.4(MUSK):c.207-1G>A rs2490594673
NM_005592.4(MUSK):c.2157dup (p.Lys720Ter)
NM_005592.4(MUSK):c.2461C>T (p.Leu821Phe) rs2078085499
NM_005592.4(MUSK):c.358+2T>C
NM_005592.4(MUSK):c.486+1G>C rs1204788520
NM_005592.4(MUSK):c.541C>T (p.Gln181Ter)
NM_005592.4(MUSK):c.70del (p.Leu24fs)
NM_005592.4(MUSK):c.754-1G>T rs2490938188
NM_005592.4(MUSK):c.754-2A>G rs1587986079
NM_005592.4(MUSK):c.913+2T>C rs757030913

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