ClinVar Miner

List of variants reported as benign for Microcephaly 5, primary, autosomal recessive by Illumina Laboratory Services, Illumina

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His) rs964201 0.99668
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_018136.5(ASPM):c.*81C>T rs12677 0.77214
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.77181
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.74895
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile) rs3762271 0.30411
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=) rs2878749 0.30404
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly) rs41310927 0.30288
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=) rs41310925 0.30222
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=) rs6676084 0.25582
NM_018136.5(ASPM):c.7605G>A (p.Val2535=) rs10922162 0.16179
NM_018136.5(ASPM):c.7860G>C (p.Gln2620His) rs12138336 0.04915
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_018136.5(ASPM):c.1977T>C (p.Ile659=) rs17550662 0.04184
NM_018136.5(ASPM):c.5083C>T (p.Arg1695Cys) rs80238010 0.02796
NM_018136.5(ASPM):c.3391-14G>T rs80058948 0.02003
NM_018136.5(ASPM):c.5579C>T (p.Ala1860Val) rs77138363 0.01515
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_018136.5(ASPM):c.5063C>T (p.Thr1688Ile) rs62624968 0.01513
NM_018136.5(ASPM):c.3912C>A (p.Ile1304=) rs56912014 0.01464
NM_018136.5(ASPM):c.2307A>G (p.Ala769=) rs35897746 0.01457
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly) rs6428388 0.01455
NM_018136.5(ASPM):c.2805T>C (p.Ser935=) rs113161395 0.01101
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_018136.5(ASPM):c.8820+7C>G rs115045814 0.00865
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=) rs115891952 0.00843
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter) rs62624965 0.00780
NM_018136.5(ASPM):c.7674C>A (p.Ile2558=) rs41308365
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=) rs41308365
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg) rs36004306

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