ClinVar Miner

List of variants in gene CYFIP2 reported as uncertain significance for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001037333.3(CYFIP2):c.2381T>C (p.Ile794Thr) rs934692505 0.00001
NM_001037333.3(CYFIP2):c.1391T>G (p.Met464Arg)
NM_001037333.3(CYFIP2):c.1493C>T (p.Ala498Val)
NM_001037333.3(CYFIP2):c.1540C>T (p.Arg514Ter) rs868243549
NM_001037333.3(CYFIP2):c.1834C>A (p.Gln612Lys) rs1760952349
NM_001037333.3(CYFIP2):c.2011A>G (p.Asn671Asp) rs1761007330
NM_001037333.3(CYFIP2):c.2065G>A (p.Glu689Lys)
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.2690A>G (p.Tyr897Cys) rs1480245320
NM_001037333.3(CYFIP2):c.2773A>G (p.Ile925Val)
NM_001037333.3(CYFIP2):c.8C>T (p.Thr3Met)

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