ClinVar Miner

List of variants in gene PCNT studied for Microcephalic Osteodysplastic Primordial Dwarfism

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Total variants: 8
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HGVS dbSNP
NM_006031.5(PCNT):c.-100delG rs397802954
NM_006031.5(PCNT):c.-100dupG rs397802954
NM_006031.5(PCNT):c.-75G>A rs747401688
NM_006031.6(PCNT):c.*22del rs777390900
NM_006031.6(PCNT):c.*343_*346del rs145379994
NM_006031.6(PCNT):c.*391_*396del rs377311069
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA rs59957960
NM_006031.6(PCNT):c.8830_8832del (p.Lys2944del) rs562568796

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