ClinVar Miner

List of variants studied for Angelman syndrome by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.*80_*83dup rs2152505917
NM_130839.5(UBE3A):c.1309C>T (p.Arg437Ter)
NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs) rs587784512
NM_130839.5(UBE3A):c.1609-8A>G rs2077891986
NM_130839.5(UBE3A):c.2364G>A (p.Trp788Ter) rs111033595
NM_130839.5(UBE3A):c.2563_2567dup (p.Lys856fs) rs1555379800
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.376A>C (p.Thr126Pro) rs111033596
NM_130839.5(UBE3A):c.449T>C (p.Ile150Thr) rs111033597
UBE3A, 15-BP DEL/7-BP INS, NT3240

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