ClinVar Miner

List of variants in gene FRRS1L reported as pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_014334.4(FRRS1L):c.583G>T (p.Gly195Ter) rs1035742818 0.00002
NM_014334.4(FRRS1L):c.-78G>T rs1310777849 0.00001
NM_014334.4(FRRS1L):c.568del (p.Ala190fs) rs747737869 0.00001
NC_000009.11:g.(?_111903603)_(111903889_?)del
NC_000009.12:g.(?_109147031)_(109147209_?)del
NC_000009.12:g.109167267dup rs1285856108
NC_000009.12:g.109167276G>A rs2118524756
NM_014334.3(FRRS1L):c.25delG (p.Gly10Valfs)
NM_014334.4(FRRS1L):c.-35_-16del
NM_014334.4(FRRS1L):c.121G>T (p.Gly41Ter) rs776257401
NM_014334.4(FRRS1L):c.145del (p.Asp49fs) rs933379958
NM_014334.4(FRRS1L):c.189C>G (p.Tyr63Ter)
NM_014334.4(FRRS1L):c.283dup (p.Ile95fs) rs878853283
NM_014334.4(FRRS1L):c.300_301del (p.Cys100fs) rs1564232243
NM_014334.4(FRRS1L):c.431del (p.Val144fs) rs1831271059
NM_014334.4(FRRS1L):c.486C>A (p.Cys162Ter) rs779716535
NM_014334.4(FRRS1L):c.517C>T (p.Gln173Ter) rs1564229174
NM_014334.4(FRRS1L):c.542G>A (p.Trp181Ter)
NM_014334.4(FRRS1L):c.564_576del (p.Asn188fs) rs2118467979
NM_014334.4(FRRS1L):c.566del (p.Pro189fs) rs1831184766
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del) rs878853282
NM_014334.4(FRRS1L):c.618_619insTTTTTTTTTTNNNNNNNNNNGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCACCTGCAGATTT (p.Lys207delinsPhePhePheXaaXaaXaaXaaGlyTrpSerArgSerProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer) rs2118467700
NM_014334.4(FRRS1L):c.618_619insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCACCTGCAGATTT (p.Lys207delinsPhePhePhePhePhePhePhePhePheXaaXaaThrSerTer)
NM_014334.4(FRRS1L):c.62del (p.Thr21fs) rs1382090523
NM_014334.4(FRRS1L):c.68_69del (p.Pro23fs) rs1382335133
NM_014334.4(FRRS1L):c.692G>A (p.Trp231Ter) rs878853281
NM_014334.4(FRRS1L):c.721C>T (p.Arg241Ter) rs1054228594
NM_014334.4(FRRS1L):c.808C>T (p.Gln270Ter) rs878853280

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