ClinVar Miner

List of variants reported as likely pathogenic for Microcephalic osteodysplastic primordial dwarfism type II

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Total variants: 12
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NM_006031.6(PCNT):c.2155-21_2186del rs1555959737
NM_006031.6(PCNT):c.3423del (p.Ser1142fs)
NM_006031.6(PCNT):c.3465-1G>A rs755084205
NM_006031.6(PCNT):c.3669dup (p.Glu1224Ter)
NM_006031.6(PCNT):c.4366C>T (p.Gln1456Ter) rs1569249386
NM_006031.6(PCNT):c.5055dup (p.Gln1686fs)
NM_006031.6(PCNT):c.5443C>T (p.Gln1815Ter)
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062
NM_006031.6(PCNT):c.607del (p.His203fs)
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006031.6(PCNT):c.9661C>T (p.Arg3221Trp)
NM_006031.6(PCNT):c.9715C>T (p.Gln3239Ter) rs1474939581

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