ClinVar Miner

List of variants studied for Microcephalic osteodysplastic primordial dwarfism type II by OMIM

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.3465-1G>A rs755084205 0.00002
NM_006031.6(PCNT):c.3840G>C (p.Gln1280His) rs1569239749 0.00001
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062 0.00001
NM_006031.6(PCNT):c.8752C>T (p.Arg2918Ter) rs119479064 0.00001
NM_006031.6(PCNT):c.1528dup (p.Thr510fs) rs1369869782
NM_006031.6(PCNT):c.1887del (p.Ala630fs) rs397509366
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) rs119479063
NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter) rs387906928
NM_006031.6(PCNT):c.3568dup (p.Cys1190fs) rs397514033
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006031.6(PCNT):c.844dup (p.Glu282fs) rs1601795448
NM_006031.6(PCNT):c.9457AAG[1] (p.Lys3154del) rs2148093442
PCNT, 486-BP DEL, NT84

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