ClinVar Miner

List of variants in gene ARF1, LOC126806039 studied for periventricular nodular heterotopia 8

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001658.4(ARF1):c.103T>C (p.Tyr35His) rs879036238
NM_001658.4(ARF1):c.103T>G (p.Tyr35Asp) rs879036238
NM_001658.4(ARF1):c.143C>T (p.Thr48Ile) rs1571844539
NM_001658.4(ARF1):c.151T>C (p.Phe51Leu) rs2124857424
NM_001658.4(ARF1):c.153C>A (p.Phe51Leu) rs2124857427
NM_001658.4(ARF1):c.201C>G (p.Asp67Glu)
NM_001658.4(ARF1):c.214del (p.Asp72fs) rs2124857526
NM_001658.4(ARF1):c.238C>T (p.His80Tyr)
NM_001658.4(ARF1):c.278A>G (p.Asp93Gly) rs2124857932
NM_001658.4(ARF1):c.295C>T (p.Arg99Cys) rs2124857939
NM_001658.4(ARF1):c.296G>A (p.Arg99His) rs1558087712
NM_001658.4(ARF1):c.379A>G (p.Lys127Glu) rs1558087795
NM_001658.4(ARF1):c.392C>G (p.Pro131Arg) rs2124858360
NM_001658.4(ARF1):c.392C>T (p.Pro131Leu) rs2124858360
NM_001658.4(ARF1):c.509T>C (p.Leu170Pro)

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