ClinVar Miner

List of variants reported as uncertain significance for Microcephaly 5, primary, autosomal recessive by Revvity Omics, Revvity

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg) rs148328539 0.00207
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly) rs150327858 0.00109
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys) rs78215018 0.00093
NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln) rs149859034 0.00079
NM_018136.5(ASPM):c.1949C>G (p.Ser650Cys) rs112997359 0.00019
NM_018136.5(ASPM):c.10096G>A (p.Gly3366Arg) rs201679731 0.00011
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp) rs144969324 0.00011
NM_018136.5(ASPM):c.5333T>C (p.Ile1778Thr) rs777352982 0.00009
NM_018136.5(ASPM):c.2103G>A (p.Gln701=) rs370972881 0.00002
NM_018136.5(ASPM):c.582T>C (p.Ala194=) rs556849969 0.00002
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu) rs576139929 0.00001
NM_018136.5(ASPM):c.10118G>A (p.Cys3373Tyr)
NM_018136.5(ASPM):c.1879C>T (p.Arg627Cys)
NM_018136.5(ASPM):c.2389C>G (p.Arg797Gly)
NM_018136.5(ASPM):c.2583A>G (p.Ile861Met)
NM_018136.5(ASPM):c.3387A>T (p.Lys1129Asn)
NM_018136.5(ASPM):c.3577_3579delinsCCA (p.Ser1193Pro)
NM_018136.5(ASPM):c.3875G>A (p.Arg1292Lys)
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.4123A>G (p.Ile1375Val)
NM_018136.5(ASPM):c.4190C>T (p.Thr1397Ile)
NM_018136.5(ASPM):c.441+5T>G
NM_018136.5(ASPM):c.5626G>A (p.Ala1876Thr)
NM_018136.5(ASPM):c.6351C>T (p.His2117=)
NM_018136.5(ASPM):c.6466G>T (p.Gly2156Cys) rs1267196794
NM_018136.5(ASPM):c.7372A>G (p.Arg2458Gly) rs560411441
NM_018136.5(ASPM):c.8740A>C (p.Ile2914Leu)
NM_018136.5(ASPM):c.9309A>T (p.Arg3103Ser)
NM_018136.5(ASPM):c.9592C>T (p.Arg3198Cys) rs760292134
NM_018136.5(ASPM):c.9593G>A (p.Arg3198His) rs145333987
NM_018136.5(ASPM):c.9695T>C (p.Ile3232Thr)
NM_018136.5(ASPM):c.9898T>C (p.Phe3300Leu)

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