ClinVar Miner

List of variants reported as likely pathogenic for Microcephaly

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Total variants: 18
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HGVS dbSNP
NM_000875.5(IGF1R):c.1906_1907dup (p.Pro637fs)
NM_001032382.2(PQBP1):c.722AGC[1] (p.Gln242del) rs1602333390
NM_001197104.2(KMT2A):c.10217C>G (p.Ser3406Ter)
NM_001281463.1(SMC1A):c.2302C>T (p.Arg768Trp) rs587784412
NM_001614.5(ACTG1):c.628C>T (p.Arg210Cys)
NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser)
NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) rs869312824
NM_007118.4(TRIO):c.2560C>T (p.Gln854Ter) rs1435239428
NM_015114.3(ANKLE2):c.1717C>G (p.Leu573Val) rs863225465
NM_015354.3(NUP188):c.1851_1852delinsG (p.Cys617fs)
NM_015354.3(NUP188):c.3515+1G>A
NM_017890.4(VPS13B):c.1950C>A (p.Cys650Ter)
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.7573_7574del (p.Glu2525fs) rs1060499757
NM_018136.5(ASPM):c.9084+5G>A rs1060499758
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_138555.4(KIF23):c.755T>A (p.Leu252His) rs748016594
NM_138576.4(BCL11B):c.1938_1950del (p.Ala647fs)

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