ClinVar Miner

List of variants reported as benign for congenital myasthenic syndrome 9

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_005592.4(MUSK):c.1586+26T>C rs484010 0.94561
NM_005592.4(MUSK):c.402G>A (p.Glu134=) rs10980531 0.16445
NM_005592.4(MUSK):c.537C>T (p.Asn179=) rs41279051 0.13243
NM_005592.4(MUSK):c.475A>G (p.Ser159Gly) rs35176182 0.12204
NM_005592.4(MUSK):c.1239G>A (p.Met413Ile) rs2274419 0.09566
NM_005592.4(MUSK):c.207-20T>C rs71501643 0.04718
NM_005592.4(MUSK):c.225C>T (p.Tyr75=) rs56130155 0.02312
NM_005592.4(MUSK):c.299C>T (p.Thr100Met) rs35142681 0.02176
NM_005592.4(MUSK):c.-82T>C rs41279047 0.01527
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser) rs55963442 0.00777
NM_005592.4(MUSK):c.1189T>C (p.Tyr397His) rs79843573 0.00659
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069 0.00399
NM_005592.4(MUSK):c.320G>A (p.Gly107Glu) rs55786136 0.00337
NM_005592.4(MUSK):c.80-8C>T rs199705752 0.00301
NM_005592.4(MUSK):c.1062G>A (p.Thr354=) rs139945437 0.00271
NM_005592.4(MUSK):c.2202C>T (p.Gly734=) rs143701488 0.00217
NM_005592.4(MUSK):c.666T>C (p.Asn222=) rs56044404 0.00208
NM_005592.4(MUSK):c.914-14T>G rs146206123 0.00207
NM_005592.4(MUSK):c.79+11G>A rs139516442 0.00138
NM_005592.4(MUSK):c.486+7G>C rs187497836 0.00128
NM_005592.4(MUSK):c.1361-12T>C rs115337040 0.00125
NM_005592.4(MUSK):c.1941C>T (p.Val647=) rs200312379 0.00108
NM_005592.4(MUSK):c.1683G>A (p.Leu561=) rs192173278 0.00105
NM_005592.4(MUSK):c.1026G>A (p.Ala342=) rs200434321 0.00098
NM_005592.4(MUSK):c.358+20G>A rs144807641 0.00089
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys) rs138418494 0.00040
NM_005592.4(MUSK):c.2573G>A (p.Arg858His) rs34115159 0.00032
NM_005592.4(MUSK):c.500T>C (p.Ile167Thr) rs202045225 0.00029
NM_005592.4(MUSK):c.2331C>T (p.Asn777=) rs56394142 0.00025
NM_005592.4(MUSK):c.2532A>G (p.Ala844=) rs193214210 0.00009
NM_005592.4(MUSK):c.312T>C (p.Gly104=) rs56181115 0.00009
NM_005592.4(MUSK):c.1245G>C (p.Glu415Asp) rs558259191 0.00007
NM_005592.4(MUSK):c.207-5T>C rs779359576 0.00004
NM_005592.4(MUSK):c.2283C>T (p.Asn761=) rs777419932 0.00004
NM_005592.4(MUSK):c.2286C>T (p.Asp762=) rs199832657 0.00004
NM_005592.4(MUSK):c.2599G>T (p.Val867Leu) rs370094071 0.00002
NM_005592.4(MUSK):c.2085A>C (p.Pro695=) rs772759899 0.00001
NM_005592.4(MUSK):c.1250C>T (p.Thr417Ile) rs538655454
NM_005592.4(MUSK):c.1778+25del
NM_005592.4(MUSK):c.1927+9dup rs555725730
NM_005592.4(MUSK):c.2485G>T (p.Val829Leu) rs578430
NM_005592.4(MUSK):c.486+22del
NM_005592.4(MUSK):c.920+25del rs147974075

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