ClinVar Miner

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

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_014334.4(FRRS1L):c.-2G>C rs10979723 0.99999
NM_014334.4(FRRS1L):c.-3C>G rs10979724 0.99999
NM_014334.4(FRRS1L):c.710-21T>C rs10759329 0.62189
NM_014334.4(FRRS1L):c.79G>T (p.Ala27Ser) rs769158433 0.00083
NM_014334.4(FRRS1L):c.133C>A (p.Arg45Ser) rs573029562 0.00052
NM_014334.4(FRRS1L):c.312G>A (p.Lys104=) rs138531590 0.00045
NM_014334.4(FRRS1L):c.323+7G>A rs757162007 0.00010
NM_014334.3(FRRS1L):c.1A>T (p.Met1Leu) rs527415212 0.00002
NM_014334.4(FRRS1L):c.426T>C (p.Gly142=) rs199500767 0.00001
NM_014334.4(FRRS1L):c.710-4A>C rs372086662 0.00001
NM_014334.4(FRRS1L):c.-3_-2delinsGC rs1554736515

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