ClinVar Miner

List of variants studied for microcephaly with or without short stature by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_018451.5(CENPJ):c.1222G>A (p.Glu408Lys) rs192296063 0.00005
NM_018451.5(CENPJ):c.419A>C (p.Asp140Ala) rs201531824 0.00001
NM_018451.5(CPAP):c.1434del (p.Lys479fs) rs1954548327
NM_018451.5(CPAP):c.2117_2118del (p.Asp705_Ser706insTer) rs761856922
NM_018451.5(CPAP):c.3081G>T (p.Gln1027His) rs1593540180
NM_018451.5(CPAP):c.3653C>T (p.Thr1218Met) rs149855336

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