ClinVar Miner

List of variants studied for oculocerebrofacial syndrome, Kaufman type by Baylor Genetics

Included ClinVar conditions (1):
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Total variants: 5
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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.2228_2229del (p.Val742_Phe743insTer) rs758821239

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