ClinVar Miner

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

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_014334.4(FRRS1L):c.-63G>A rs530413587 0.00313
NM_014334.4(FRRS1L):c.395T>C (p.Val132Ala) rs149005559 0.00048
NM_014334.4(FRRS1L):c.129G>A (p.Arg43=) rs768363888 0.00026
NM_014334.4(FRRS1L):c.189C>T (p.Tyr63=) rs1052826149 0.00025
NM_014334.4(FRRS1L):c.39G>A (p.Ala13=) rs773235133 0.00015
NM_014334.4(FRRS1L):c.30G>C (p.Gly10=) rs895585877 0.00009
NM_014334.4(FRRS1L):c.678T>C (p.Tyr226=) rs376047829 0.00006
NM_014334.4(FRRS1L):c.492T>C (p.His164=) rs201285410 0.00005
NM_014334.4(FRRS1L):c.126C>A (p.Pro42=) rs1425779857 0.00004
NM_014334.4(FRRS1L):c.238+11G>A rs553540396 0.00004
NM_014334.4(FRRS1L):c.294C>T (p.Asp98=) rs755962433 0.00004
NM_014334.4(FRRS1L):c.-94T>A rs764458795 0.00003
NM_014334.4(FRRS1L):c.-58C>T rs1280023187 0.00002
NM_014334.4(FRRS1L):c.309T>C (p.Thr103=) rs552700203 0.00002
NM_014334.4(FRRS1L):c.387G>A (p.Gly129=) rs773843617 0.00002
NM_014334.4(FRRS1L):c.483C>A (p.Ala161=) rs754499375 0.00002
NM_014334.4(FRRS1L):c.603C>T (p.Arg201=) rs1300082493 0.00002
NC_000009.12:g.109167253G>T rs1170375441 0.00001
NM_014334.4(FRRS1L):c.-100G>A rs913883506 0.00001
NM_014334.4(FRRS1L):c.-102C>A rs757388680 0.00001
NM_014334.4(FRRS1L):c.-109G>T rs1256823075 0.00001
NM_014334.4(FRRS1L):c.-12C>T rs1400351195 0.00001
NM_014334.4(FRRS1L):c.-67C>G rs1342022093 0.00001
NM_014334.4(FRRS1L):c.129G>C (p.Arg43=) rs768363888 0.00001
NM_014334.4(FRRS1L):c.239-16T>C rs762849451 0.00001
NM_014334.4(FRRS1L):c.323+8G>A rs753796727 0.00001
NM_014334.4(FRRS1L):c.324-11A>T rs748296431 0.00001
NM_014334.4(FRRS1L):c.324-6T>C rs755165973 0.00001
NM_014334.4(FRRS1L):c.327T>C (p.Tyr109=) rs898527400 0.00001
NM_014334.4(FRRS1L):c.336A>G (p.Pro112=) rs753741493 0.00001
NM_014334.4(FRRS1L):c.414A>C (p.Ala138=) rs747217887 0.00001
NM_014334.4(FRRS1L):c.432A>T (p.Val144=) rs368393399 0.00001
NM_014334.4(FRRS1L):c.486C>T (p.Cys162=) rs779716535 0.00001
NM_014334.4(FRRS1L):c.531T>C (p.Asn177=) rs769545466 0.00001
NM_014334.4(FRRS1L):c.66G>A (p.Gly22=) rs1397352814 0.00001
NM_014334.4(FRRS1L):c.710-8T>C rs775558878 0.00001
NM_014334.4(FRRS1L):c.72C>T (p.Ala24=) rs1588106644 0.00001
NM_014334.4(FRRS1L):c.741G>A (p.Pro247=) rs781543300 0.00001
NM_014334.4(FRRS1L):c.744G>A (p.Pro248=) rs752083667 0.00001
NM_014334.4(FRRS1L):c.768T>C (p.Ile256=) rs1174210041 0.00001
NM_014334.4(FRRS1L):c.873A>T (p.Gly291=) rs377132738 0.00001
NC_000009.12:g.109167265C>T rs758838412
NC_000009.12:g.109167279T>G rs943215649
NM_014334.3(FRRS1L):c.12G>C (p.Pro4=)
NM_014334.3(FRRS1L):c.15G>A (p.Arg5=)
NM_014334.3(FRRS1L):c.33G>C (p.Ala11=)
NM_014334.4(FRRS1L):c.-109G>A rs1256823075
NM_014334.4(FRRS1L):c.-21C>T rs1025173467
NM_014334.4(FRRS1L):c.-34C>A rs1487787394
NM_014334.4(FRRS1L):c.-43C>A rs969535888
NM_014334.4(FRRS1L):c.-43C>G
NM_014334.4(FRRS1L):c.-43C>T rs969535888
NM_014334.4(FRRS1L):c.-49C>T
NM_014334.4(FRRS1L):c.-64G>A
NM_014334.4(FRRS1L):c.-70A>T
NM_014334.4(FRRS1L):c.-79C>T rs1204034171
NM_014334.4(FRRS1L):c.-88T>C
NM_014334.4(FRRS1L):c.-94T>C
NM_014334.4(FRRS1L):c.117C>G (p.Gly39=)
NM_014334.4(FRRS1L):c.144G>A (p.Gly48=)
NM_014334.4(FRRS1L):c.165G>C (p.Ala55=) rs780340038
NM_014334.4(FRRS1L):c.165G>T (p.Ala55=)
NM_014334.4(FRRS1L):c.177C>T (p.His59=) rs1564238035
NM_014334.4(FRRS1L):c.195C>T (p.Thr65=)
NM_014334.4(FRRS1L):c.201G>A (p.Ala67=)
NM_014334.4(FRRS1L):c.201G>T (p.Ala67=)
NM_014334.4(FRRS1L):c.207G>A (p.Glu69=)
NM_014334.4(FRRS1L):c.213C>T (p.Tyr71=) rs2118522749
NM_014334.4(FRRS1L):c.231G>T (p.Ser77=)
NM_014334.4(FRRS1L):c.238+10C>T
NM_014334.4(FRRS1L):c.238+20A>T
NM_014334.4(FRRS1L):c.239-12C>T
NM_014334.4(FRRS1L):c.239-4C>T
NM_014334.4(FRRS1L):c.260C>G (p.Pro87Arg) rs768169514
NM_014334.4(FRRS1L):c.285C>A (p.Ile95=) rs1175070188
NM_014334.4(FRRS1L):c.288A>G (p.Lys96=)
NM_014334.4(FRRS1L):c.30G>A (p.Gly10=) rs895585877
NM_014334.4(FRRS1L):c.323+11C>T
NM_014334.4(FRRS1L):c.323+15A>T
NM_014334.4(FRRS1L):c.323+17G>T
NM_014334.4(FRRS1L):c.323+19T>C
NM_014334.4(FRRS1L):c.323+9A>C rs1831305195
NM_014334.4(FRRS1L):c.324-12T>C
NM_014334.4(FRRS1L):c.324-15C>T
NM_014334.4(FRRS1L):c.363T>C (p.Tyr121=) rs2118482339
NM_014334.4(FRRS1L):c.43C>T (p.Leu15=) rs1831564608
NM_014334.4(FRRS1L):c.462+12A>G
NM_014334.4(FRRS1L):c.462+16del rs2118481793
NM_014334.4(FRRS1L):c.462+18A>G
NM_014334.4(FRRS1L):c.462+8G>A
NM_014334.4(FRRS1L):c.463-10C>T rs1453823170
NM_014334.4(FRRS1L):c.463-15C>A
NM_014334.4(FRRS1L):c.463-5G>A rs2118468399
NM_014334.4(FRRS1L):c.477C>T (p.Val159=)
NM_014334.4(FRRS1L):c.48C>T (p.Leu16=) rs1026370550
NM_014334.4(FRRS1L):c.498C>T (p.Asp166=) rs558810564
NM_014334.4(FRRS1L):c.54G>A (p.Leu18=) rs1588106658
NM_014334.4(FRRS1L):c.555T>C (p.Ile185=) rs2118468038
NM_014334.4(FRRS1L):c.561A>G (p.Arg187=) rs2118468029
NM_014334.4(FRRS1L):c.57A>G (p.Leu19=)
NM_014334.4(FRRS1L):c.58C>T (p.Leu20=) rs2118523590
NM_014334.4(FRRS1L):c.597C>T (p.Asn199=)
NM_014334.4(FRRS1L):c.606C>T (p.Val202=) rs1588097010
NM_014334.4(FRRS1L):c.624C>A (p.Arg208=) rs774532898
NM_014334.4(FRRS1L):c.654T>C (p.Ile218=) rs2118467535
NM_014334.4(FRRS1L):c.660T>C (p.Asp220=)
NM_014334.4(FRRS1L):c.661C>T (p.Leu221=)
NM_014334.4(FRRS1L):c.663G>A (p.Leu221=)
NM_014334.4(FRRS1L):c.690T>C (p.Ala230=)
NM_014334.4(FRRS1L):c.709+19A>G
NM_014334.4(FRRS1L):c.710-20C>T
NM_014334.4(FRRS1L):c.710-7C>G rs1564227777
NM_014334.4(FRRS1L):c.717C>T (p.Ile239=)
NM_014334.4(FRRS1L):c.735C>T (p.Asp245=)
NM_014334.4(FRRS1L):c.771C>T (p.Tyr257=) rs1432798763
NM_014334.4(FRRS1L):c.813C>T (p.Thr271=) rs2118459091
NM_014334.4(FRRS1L):c.822T>A (p.Ser274=) rs2118459042
NM_014334.4(FRRS1L):c.852G>A (p.Leu284=) rs1588095618
NM_014334.4(FRRS1L):c.862C>T (p.Leu288=)
NM_014334.4(FRRS1L):c.879C>T (p.Pro293=)
NM_014334.4(FRRS1L):c.90C>G (p.Pro30=)
NM_014334.4(FRRS1L):c.90C>T (p.Pro30=) rs1037617722

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