ClinVar Miner

List of variants in gene CYFIP2 studied for complex neurodevelopmental disorder

Included ClinVar conditions (297):
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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001037333.3(CYFIP2):c.1110+41G>C rs393178 0.52045
NM_001037333.3(CYFIP2):c.2585+9G>A rs3734028 0.47264
NM_001037333.3(CYFIP2):c.1530A>G (p.Leu510=) rs1823035 0.32531
NM_001037333.3(CYFIP2):c.2817+12C>A rs2289851 0.21242
NM_001037333.3(CYFIP2):c.2079+9T>C rs2289850 0.11382
NM_001037333.3(CYFIP2):c.438C>T (p.Ala146=) rs375762537 0.00141
NM_001037333.3(CYFIP2):c.1299A>G (p.Glu433=) rs372259482 0.00002
NM_001037333.3(CYFIP2):c.2381T>C (p.Ile794Thr) rs934692505 0.00001
NM_001037333.3(CYFIP2):c.1363G>C (p.Ala455Pro) rs1760440801
NM_001037333.3(CYFIP2):c.1391T>G (p.Met464Arg)
NM_001037333.3(CYFIP2):c.1404G>C (p.Glu468Asp) rs971284726
NM_001037333.3(CYFIP2):c.1493C>T (p.Ala498Val)
NM_001037333.3(CYFIP2):c.1524-9C>T
NM_001037333.3(CYFIP2):c.1540C>T (p.Arg514Ter) rs868243549
NM_001037333.3(CYFIP2):c.1651G>C (p.Val551Leu)
NM_001037333.3(CYFIP2):c.1834C>A (p.Gln612Lys) rs1760952349
NM_001037333.3(CYFIP2):c.1917C>G (p.Ile639Met) rs369858004
NM_001037333.3(CYFIP2):c.1918G>A (p.Glu640Lys) rs1760957806
NM_001037333.3(CYFIP2):c.2011A>G (p.Asn671Asp) rs1761007330
NM_001037333.3(CYFIP2):c.2065G>A (p.Glu689Lys)
NM_001037333.3(CYFIP2):c.2066A>G (p.Glu689Gly) rs1761011834
NM_001037333.3(CYFIP2):c.2086C>A (p.Leu696Met)
NM_001037333.3(CYFIP2):c.2089T>C (p.Cys697Arg) rs2113154685
NM_001037333.3(CYFIP2):c.2095G>C (p.Asp699His) rs1581069143
NM_001037333.3(CYFIP2):c.2095G>T (p.Asp699Tyr) rs1581069143
NM_001037333.3(CYFIP2):c.2096A>G (p.Asp699Gly) rs1581069148
NM_001037333.3(CYFIP2):c.2099A>G (p.Gln700Arg) rs1761161860
NM_001037333.3(CYFIP2):c.2354G>A (p.Arg785His)
NM_001037333.3(CYFIP2):c.2461G>A (p.Asp821Asn)
NM_001037333.3(CYFIP2):c.2558A>G (p.Asn853Ser) rs1762073906
NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser) rs1131692231
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro) rs1554108163
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu) rs1554108163
NM_001037333.3(CYFIP2):c.2690A>G (p.Tyr897Cys) rs1480245320
NM_001037333.3(CYFIP2):c.2773A>G (p.Ile925Val)
NM_001037333.3(CYFIP2):c.283dup (p.Gln95fs) rs5872508
NM_001037333.3(CYFIP2):c.322T>C (p.Tyr108His)
NM_001037333.3(CYFIP2):c.887A>T (p.Asp296Val)
NM_001037333.3(CYFIP2):c.8C>T (p.Thr3Met)

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