List of variants reported as uncertain significance for microcephalic osteodysplastic primordial dwarfism by Revvity Omics, Revvity

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=)	rs139383288	0.00058
NM_006031.6(PCNT):c.979G>C (p.Glu327Gln)	rs575720246	0.00045
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln)	rs145055342	0.00032
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu)	rs148389745	0.00029
NM_006031.6(PCNT):c.977C>T (p.Ala326Val)	rs181165794	0.00010
NM_006031.6(PCNT):c.7298C>T (p.Ser2433Leu)	rs769852846	0.00005
NM_006031.6(PCNT):c.6884C>T (p.Pro2295Leu)	rs572123043	0.00003
NM_006031.6(PCNT):c.10000dup (p.Ile3334fs)
NM_006031.6(PCNT):c.2075T>C (p.Ile692Thr)	rs886057179
NM_006031.6(PCNT):c.5632G>C (p.Asp1878His)
NM_006031.6(PCNT):c.6914C>T (p.Thr2305Met)	rs770226991
NM_006031.6(PCNT):c.7601A>G (p.Gln2534Arg)
NM_006031.6(PCNT):c.8114G>T (p.Cys2705Phe)
NM_006031.6(PCNT):c.8591A>G (p.Glu2864Gly)
NM_006031.6(PCNT):c.9611T>C (p.Ile3204Thr)
NM_006031.6(PCNT):c.9673C>G (p.Leu3225Val)
NM_006031.6(PCNT):c.9752C>T (p.Pro3251Leu)

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