ClinVar Miner

List of variants studied for microcephaly 6 with or without short stature by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_018451.5(CPAP):c.175A>G (p.Thr59Ala) rs138732534 0.00157
NM_018451.5(CPAP):c.1960G>A (p.Ala654Thr) rs140927921 0.00121
NM_018451.5(CPAP):c.3920C>T (p.Thr1307Ile) rs144251950 0.00076
NM_018451.5(CPAP):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_018451.5(CPAP):c.1410G>A (p.Pro470=) rs115628561 0.00054
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825 0.00043
NM_018451.5(CENPJ):c.452A>G (p.Glu151Gly) rs34177811 0.00039
NM_018451.5(CPAP):c.1513G>A (p.Glu505Lys) rs145679691 0.00036
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala) rs41306027 0.00032
NM_018451.5(CPAP):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
NM_018451.5(CENPJ):c.2470A>T (p.Thr824Ser) rs149885751 0.00025
NM_018451.5(CPAP):c.2852A>G (p.Gln951Arg) rs138675304 0.00021
NM_018451.5(CENPJ):c.1263G>C (p.Gln421His) rs201088712 0.00020
NM_018451.5(CENPJ):c.699G>A (p.Pro233=) rs587783413 0.00006
NM_018451.5(CENPJ):c.216T>G (p.Asp72Glu) rs34395671 0.00004
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) rs797045450 0.00001
NM_018451.5(CENPJ):c.3367-4A>G rs587783409 0.00001
NM_018451.5(CENPJ):c.3448C>T (p.Gln1150Ter) rs587783410 0.00001
NM_018451.5(CENPJ):c.444+3A>G rs587783411 0.00001
NM_018451.5(CENPJ):c.650G>A (p.Cys217Tyr) rs587783412 0.00001
NM_018451.5(CENPJ):c.1339A>T (p.Lys447Ter) rs797045447
NM_018451.5(CENPJ):c.1404_1407del (p.Ser469fs) rs777893196
NM_018451.5(CENPJ):c.1850_1851del (p.Pro617fs) rs797045448
NM_018451.5(CENPJ):c.1882del (p.Ala628fs) rs797045449
NM_018451.5(CENPJ):c.2210A>G (p.Asp737Gly) rs587783408
NM_018451.5(CENPJ):c.3007dup (p.Ile1003fs) rs797045452
NM_018451.5(CPAP):c.3495_3497dup (p.Lys1165dup) rs776528706
NM_018451.5(CPAP):c.898_899del (p.Glu300fs) rs797045454

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