ClinVar Miner

List of variants reported as benign for congenital myasthenic syndrome 17 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_002334.4(LRP4):c.1623T>C (p.Asp541=) rs10769215 0.99630
NM_002334.4(LRP4):c.1638A>G (p.Lys546=) rs10838631 0.98127
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val) rs6485702 0.50674
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly) rs2306029 0.42236
NM_002334.4(LRP4):c.4905C>T (p.Phe1635=) rs2290883 0.12958
NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val) rs2306033 0.12951
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser) rs7926667 0.05542
NM_002334.4(LRP4):c.1695G>A (p.Glu565=) rs61741501 0.05533
NM_002334.4(LRP4):c.813G>A (p.Thr271=) rs879721 0.05245
NM_002334.4(LRP4):c.129C>G (p.Thr43=) rs61742974 0.04439
NM_002334.4(LRP4):c.1501A>C (p.Asn501His) rs72897663 0.03190
NM_002334.4(LRP4):c.4837+10C>T rs74806847 0.02807
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=) rs61733844 0.02133
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His) rs117936904 0.01806
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp) rs118009068 0.01699
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01289
NM_002334.4(LRP4):c.5010G>A (p.Val1670=) rs111426027 0.00936
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg) rs61744209 0.00677
NM_002334.4(LRP4):c.300G>A (p.Ser100=) rs61745166 0.00459
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=) rs61746928 0.00385
NM_002334.4(LRP4):c.2151C>T (p.Gly717=) rs114920029 0.00361
NM_002334.4(LRP4):c.2506+18G>A rs148998354 0.00327
NM_002334.4(LRP4):c.1828C>T (p.Arg610Cys) rs150253578 0.00314
NM_002334.4(LRP4):c.1551T>C (p.Ala517=) rs150777198 0.00307
NM_002334.4(LRP4):c.1191T>C (p.Asn397=) rs73458078 0.00233
NM_002334.4(LRP4):c.1494C>T (p.Asn498=) rs61749083 0.00221
NM_002334.4(LRP4):c.4674C>T (p.His1558=) rs61742905 0.00127
NM_002334.4(LRP4):c.430+15C>T rs199835230 0.00108
NM_002334.4(LRP4):c.4951+10A>G rs371455422 0.00093
NM_002334.4(LRP4):c.4951+13G>C rs367744491 0.00079
NM_002334.4(LRP4):c.1005C>T (p.Asn335=) rs141757569 0.00077
NM_002334.4(LRP4):c.141C>G (p.Ala47=) rs543418199 0.00076
NM_002334.4(LRP4):c.387C>T (p.Cys129=) rs80333596 0.00076
NM_002334.4(LRP4):c.570C>T (p.Pro190=) rs147353838 0.00061
NM_002334.4(LRP4):c.677-14T>C rs373597511 0.00059
NM_002334.4(LRP4):c.2506+17C>T rs376349760 0.00052
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln) rs140495790 0.00010
NM_002334.4(LRP4):c.2092+17C>T rs200761003 0.00009
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 0.00001
NM_002334.4(LRP4):c.2093-15dup rs375880498
NM_002334.4(LRP4):c.2814+13_2814+35del
NM_002334.4(LRP4):c.3004+18C>A rs2306028
NM_002334.4(LRP4):c.3536+16A>T
NM_002334.4(LRP4):c.4890C>T (p.Ala1630=) rs550931351
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln) rs3816614

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