ClinVar Miner

List of variants studied for Macrocephaly, acquired, with impaired intellectual development

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001190737.2(NFIB):c.1217A>G (p.Tyr406Cys) rs750060639 0.00003
NM_001190737.2(NFIB):c.*98G>C rs2118462290
NM_001190737.2(NFIB):c.1063_1076del (p.Ile355fs) rs1554639173
NM_001190737.2(NFIB):c.1073del (p.Arg358fs)
NM_001190737.2(NFIB):c.109C>T (p.Arg37Ter) rs1554709792
NM_001190737.2(NFIB):c.1136C>G (p.Ser379Trp) rs2119150843
NM_001190737.2(NFIB):c.1147T>C (p.Ser383Pro) rs2038781074
NM_001190737.2(NFIB):c.115C>T (p.Arg39Cys) rs1588253471
NM_001190737.2(NFIB):c.142C>T (p.Arg48Ter) rs2132704082
NM_001190737.2(NFIB):c.152del (p.Lys51fs) rs2132704027
NM_001190737.2(NFIB):c.230T>G (p.Leu77Arg)
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter) rs764333096
NM_001190737.2(NFIB):c.26dup (p.Gln10fs)
NM_001190737.2(NFIB):c.30+9C>G
NM_001190737.2(NFIB):c.328G>A (p.Asp110Asn)
NM_001190737.2(NFIB):c.340A>G (p.Lys114Glu)
NM_001190737.2(NFIB):c.341A>C (p.Lys114Thr) rs1554709683
NM_001190737.2(NFIB):c.373_376del (p.Asp125fs) rs2132702633
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu) rs1554709662
NM_001190737.2(NFIB):c.386G>A (p.Arg129His) rs2060062099
NM_001190737.2(NFIB):c.395T>C (p.Leu132Pro) rs1554709654
NM_001190737.2(NFIB):c.416A>G (p.Lys139Arg) rs2132702460
NM_001190737.2(NFIB):c.550G>A (p.Val184Met)
NM_001190737.2(NFIB):c.594T>G (p.Asn198Lys) rs748665864
NM_001190737.2(NFIB):c.661T>A (p.Ser221Thr)
NM_001190737.2(NFIB):c.686-2A>G
NM_001190737.2(NFIB):c.758_759dup (p.Asn254Ter) rs1554649366
NM_001190737.2(NFIB):c.787_788del (p.Leu263fs) rs2042704405
NM_001190737.2(NFIB):c.799C>G (p.Pro267Ala)
NM_001190737.2(NFIB):c.86A>G (p.Tyr29Cys)
NM_001190737.2(NFIB):c.901C>T (p.Arg301Ter) rs1364033144
NM_001190737.2(NFIB):c.93_94del (p.Trp31fs)
NM_001190737.2(NFIB):c.951del (p.Lys318fs)
NM_001190737.2(NFIB):c.955C>G (p.Pro319Ala)
NM_001190738.2(NFIB):c.109-33576G>A rs2132874132

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