ClinVar Miner

List of variants studied for alternating hemiplegia of childhood by OMIM

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP
NM_000475.4(NR0B1):c.109C>T (p.Gln37Ter) rs104894908
NM_000475.4(NR0B1):c.1107G>A (p.Trp369Ter) rs104894886
NM_000475.4(NR0B1):c.1138T>G (p.Tyr380Asp) rs104894900
NM_000475.4(NR0B1):c.1142T>A (p.Leu381His) rs104894899
NM_000475.4(NR0B1):c.1146G>T (p.Lys382Asn) rs104894896
NM_000475.4(NR0B1):c.116G>A (p.Trp39Ter)
NM_000475.4(NR0B1):c.1183C>T (p.Gln395Ter) rs104894894
NM_000475.4(NR0B1):c.1197C>A (p.Tyr399Ter) rs104894906
NM_000475.4(NR0B1):c.1231_1234delCTCA (p.Leu411Valfs)
NM_000475.4(NR0B1):c.1316T>G (p.Ile439Ser) rs104894897
NM_000475.4(NR0B1):c.1319A>T (p.Asn440Ile) rs28935481
NM_000475.4(NR0B1):c.273C>A (p.Tyr91Ter) rs104894892
NM_000475.4(NR0B1):c.501delA (p.Gly169Alafs)
NM_000475.4(NR0B1):c.513G>A (p.Trp171Ter) rs104894891
NM_000475.4(NR0B1):c.591C>A (p.Tyr197Ter) rs104894898
NM_000475.4(NR0B1):c.704G>A (p.Trp235Ter) rs104894889
NM_000475.4(NR0B1):c.788T>A (p.Leu263Ter) rs104894887
NM_000475.4(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_000475.4(NR0B1):c.813C>G (p.Tyr271Ter) rs104894895
NM_000475.4(NR0B1):c.847C>T (p.Gln283Ter) rs104894890
NM_000475.4(NR0B1):c.873G>C (p.Trp291Cys) rs28935482
NM_000475.4(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000702.3(ATP1A2):c.1133C>A (p.Thr378Asn) rs28934002
NM_152296.3(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.4(ATP1A3):c.2431T>C (p.Ser811Pro) rs387907282
NM_152296.4(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.4(ATP1A3):c.2542+1G>A rs606231441
NM_152296.4(ATP1A3):c.2767G>T (p.Asp923Tyr) rs267606670
NM_152296.4(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.4(ATP1A3):c.2839G>C (p.Gly947Arg) rs398122887
NM_152296.4(ATP1A3):c.821T>A (p.Ile274Asn) rs80356532
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) rs80356537
NR0B1, 1-BP DEL
NR0B1, 1-BP DEL, 1169C
NR0B1, 1-BP INS, 430G
NR0B1, 2-BP DEL, 1610AG, AND 1-BP INS
NR0B1, 2-BP DEL, 388AG
NR0B1, 2.2-KB DEL/27-BP INS
NR0B1, DEL

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