List of variants reported as pathogenic for Myasthenic syndrome, congenital, 22

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 50

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HGVS	dbSNP	gnomAD frequency
NM_001171613.2(PREPL):c.1753+1G>T	rs148092524	0.00009
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter)	rs200761047	0.00005
NM_001171613.2(PREPL):c.616C>T (p.Arg206Ter)	rs145356495	0.00002
NM_001171613.2(PREPL):c.888+1G>A	rs758019788	0.00002
NM_001171613.2(PREPL):c.-42del	rs749853265	0.00001
NM_001171613.2(PREPL):c.-49+1734C>T	rs374594354	0.00001
NM_001171613.2(PREPL):c.-49+1778C>A	rs775136514	0.00001
NM_001171613.2(PREPL):c.427C>T (p.Arg143Ter)	rs1361739547	0.00001
NC_000002.11:g.(?_44507855)_(44549039_?)del
NC_000002.11:g.(?_44527090)_(44556271_?)del
NC_000002.11:g.(?_44547318)_(44556271_?)del
NC_000002.11:g.(?_44547318)_(44569711_?)del
NC_000002.11:g.(?_44548495)_(44571745_?)del
NC_000002.11:g.(?_44548495)_(44586854_?)del
NC_000002.11:g.(?_44549870)_(44556251_?)del
NC_000002.11:g.(?_44553841)_(44566512_?)del
NC_000002.11:g.(?_44565470)_(44566522_?)del
NC_000002.11:g.(?_44565470)_(44586854_?)del
NC_000002.11:g.44559541_44571008del
NC_000002.12:g.(?_44280696)_(44346410_?)del
NC_000002.12:g.(?_44280716)_(44346390_?)del
NC_000002.12:g.(?_44320179)_(44346410_?)del
NC_000002.12:g.(?_44321336)_(44346410_?)del
NC_000002.12:g.(?_44321336)_(44359735_?)del
NC_000002.12:g.(?_44321346)_(44359725_?)del
NC_000002.12:g.(?_44359487)_(44359725_?)del
NM_001171613.2(PREPL):c.-31_-28del	rs1553360075
NM_001171613.2(PREPL):c.-49+1740C>T
NM_001171613.2(PREPL):c.-49+1802T>A	rs2104270031
NM_001171613.2(PREPL):c.-49+1826dup	rs2466493535
NM_001171613.2(PREPL):c.-49+1843_-49+1844del	rs2466493117
NM_001171613.2(PREPL):c.1015_1018del (p.Phe339fs)	rs748639083
NM_001171613.2(PREPL):c.1097T>A (p.Leu366Ter)
NM_001171613.2(PREPL):c.1250_1251del (p.Tyr417fs)	rs2466120526
NM_001171613.2(PREPL):c.1261C>T (p.Arg421Ter)	rs779879227
NM_001171613.2(PREPL):c.1337T>G (p.Leu446Ter)	rs1553352792
NM_001171613.2(PREPL):c.1339G>T (p.Glu447Ter)
NM_001171613.2(PREPL):c.1366C>T (p.Gln456Ter)	rs1673549822
NM_001171613.2(PREPL):c.1378C>T (p.Gln460Ter)	rs2466095416
NM_001171613.2(PREPL):c.1475T>A (p.Leu492Ter)
NM_001171613.2(PREPL):c.1521_1522dup (p.Leu508fs)	rs1355856142
NM_001171613.2(PREPL):c.167del (p.Leu56fs)	rs775517492
NM_001171613.2(PREPL):c.1729G>T (p.Glu577Ter)	rs983509465
NM_001171613.2(PREPL):c.196C>T (p.Gln66Ter)	rs2103986758
NM_001171613.2(PREPL):c.448_451del (p.Lys150fs)	rs779488471
NM_001171613.2(PREPL):c.540del (p.Ile180_Met181insTer)	rs1057523690
NM_001171613.2(PREPL):c.634del (p.Tyr212fs)	rs2103925424
NM_001171613.2(PREPL):c.71_72insCT (p.Glu25fs)	rs2466334369
NM_001171613.2(PREPL):c.75del (p.Val26fs)	rs1675812434
NM_001171613.2(PREPL):c.94_97del (p.Val32fs)	rs1436090495

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