ClinVar Miner

List of variants reported as likely benign for congenital myasthenic syndrome 15 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_144988.4(ALG14):c.113G>T (p.Ser38Ile) rs139521179 0.00255
NM_144988.4(ALG14):c.40G>A (p.Val14Met) rs11165298 0.00091
NM_144988.4(ALG14):c.552C>T (p.Ser184=) rs148202016 0.00059
NM_144988.4(ALG14):c.354C>T (p.Thr118=) rs372809921 0.00015
NM_144988.4(ALG14):c.36A>G (p.Gly12=) rs368851775 0.00007
NM_144988.4(ALG14):c.609A>G (p.Lys203=) rs200959923 0.00006
NM_144988.4(ALG14):c.9C>T (p.Cys3=) rs780164458 0.00006
NM_144988.4(ALG14):c.540G>A (p.Thr180=) rs767937526 0.00005
NM_144988.4(ALG14):c.421-6T>C rs764786734 0.00001
NM_144988.4(ALG14):c.432C>T (p.Asn144=) rs372801574 0.00001
NM_144988.4(ALG14):c.513C>T (p.Tyr171=) rs145148882 0.00001
NM_144988.4(ALG14):c.546C>T (p.Ser182=) rs199846785 0.00001
NM_144988.4(ALG14):c.111C>T (p.Leu37=) rs1035901315
NM_144988.4(ALG14):c.132G>A (p.Gly44=)
NM_144988.4(ALG14):c.136+10G>A
NM_144988.4(ALG14):c.136+10G>C rs771775941
NM_144988.4(ALG14):c.136+17C>A rs2100856342
NM_144988.4(ALG14):c.136+18G>T
NM_144988.4(ALG14):c.137-15T>C
NM_144988.4(ALG14):c.137-8T>C
NM_144988.4(ALG14):c.138T>C (p.Gly46=)
NM_144988.4(ALG14):c.165G>A (p.Leu55=)
NM_144988.4(ALG14):c.21A>G (p.Leu7=) rs1218214553
NM_144988.4(ALG14):c.234C>A (p.Ala78=)
NM_144988.4(ALG14):c.262C>A (p.Arg88=)
NM_144988.4(ALG14):c.288+18_288+23del
NM_144988.4(ALG14):c.288+9C>T
NM_144988.4(ALG14):c.289-4C>T rs767492224
NM_144988.4(ALG14):c.393C>T (p.Pro131=) rs2100771798
NM_144988.4(ALG14):c.396A>G (p.Leu132=) rs2100771768
NM_144988.4(ALG14):c.420+14T>C
NM_144988.4(ALG14):c.420+15C>G
NM_144988.4(ALG14):c.420+17C>T
NM_144988.4(ALG14):c.420+19A>G
NM_144988.4(ALG14):c.423G>A (p.Val141=)
NM_144988.4(ALG14):c.474C>T (p.Leu158=)
NM_144988.4(ALG14):c.531T>G (p.Arg177=)
NM_144988.4(ALG14):c.600G>A (p.Pro200=)
NM_144988.4(ALG14):c.621C>T (p.Pro207=)
NM_144988.4(ALG14):c.633C>T (p.Tyr211=)
NM_144988.4(ALG14):c.6G>A (p.Val2=)

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