List of variants in gene UBE3B reported as uncertain significance for oculocerebrofacial syndrome, Kaufman type

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_130466.4(UBE3B):c.2962G>A (p.Ala988Thr)	rs753221661	0.00006
NM_130466.4(UBE3B):c.3046C>T (p.Arg1016Trp)	rs192805046	0.00005
NM_130466.4(UBE3B):c.3015+4C>T	rs1333719194	0.00003
NM_130466.4(UBE3B):c.893G>A (p.Arg298His)	rs755402322	0.00001
NM_130466.4(UBE3B):c.1166G>T (p.Trp389Leu)	rs368887776
NM_130466.4(UBE3B):c.1445T>A (p.Leu482His)	rs1879212341
NM_130466.4(UBE3B):c.1507G>A (p.Gly503Arg)
NM_130466.4(UBE3B):c.1616T>C (p.Leu539Pro)	rs1879869290
NM_130466.4(UBE3B):c.1689CTC[1] (p.Ser565del)	rs786205621
NM_130466.4(UBE3B):c.1811G>A (p.Arg604Gln)
NM_130466.4(UBE3B):c.2519T>C (p.Ile840Thr)
NM_130466.4(UBE3B):c.3014A>C (p.Gln1005Pro)	rs2136147852

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