ClinVar Miner

List of variants reported as likely pathogenic for alternating hemiplegia

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000475.5(NR0B1):c.1006dup (p.Val336fs) rs1926565039
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro) rs386134262
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.1168+1_1168+20del rs1555972943
NM_000475.5(NR0B1):c.1411T>C (p.Ter471Gln) rs1926485824
NM_000475.5(NR0B1):c.1A>G (p.Met1Val)
NM_000475.5(NR0B1):c.510_522dup (p.Ser175fs) rs2147007005
NM_000475.5(NR0B1):c.606C>A (p.Cys202Ter)
NM_000475.5(NR0B1):c.617del (p.His206fs)
NM_000475.5(NR0B1):c.64C>T (p.Gln22Ter)
NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro) rs2147006592
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro) rs1060499835
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val)
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn) rs28934002
NM_000702.4(ATP1A2):c.1843G>A (p.Gly615Arg) rs770053423
NM_000702.4(ATP1A2):c.2336G>A (p.Ser779Asn) rs2101995480
NM_000702.4(ATP1A2):c.2444C>G (p.Pro815Arg)
NM_000702.4(ATP1A2):c.2809C>T (p.Arg937Cys) rs1558009266
NM_000702.4(ATP1A2):c.2809del (p.Arg937fs) rs1651974671
NM_000702.4(ATP1A2):c.2935_2936delinsAA (p.Pro979Lys)
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr) rs181618883
NM_152296.5(ATP1A3):c.1004C>A (p.Thr335Lys) rs1131691940
NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr) rs2145972483
NM_152296.5(ATP1A3):c.1090T>C (p.Cys364Arg) rs2075237136
NM_152296.5(ATP1A3):c.1790G>C (p.Arg597Pro)
NM_152296.5(ATP1A3):c.1801A>R (p.Ile601Xaa)
NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr)
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2266C>A (p.Arg756Ser)
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2330T>A (p.Ile777Asn) rs1599706522
NM_152296.5(ATP1A3):c.2401G>C (p.Asp801His) rs80356537
NM_152296.5(ATP1A3):c.2423C>T (p.Pro808Leu)
NM_152296.5(ATP1A3):c.2527G>A (p.Ala843Thr)
NM_152296.5(ATP1A3):c.2528C>A (p.Ala843Asp)
NM_152296.5(ATP1A3):c.2759A>G (p.Gln920Arg) rs2075071667
NM_152296.5(ATP1A3):c.2780G>A (p.Cys927Tyr) rs606231444
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) rs398122887
NM_152296.5(ATP1A3):c.2933G>A (p.Trp978Ter)
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met) rs1555865401
NM_152296.5(ATP1A3):c.991A>C (p.Thr331Pro)
NM_152296.5(ATP1A3):c.998G>A (p.Cys333Tyr)

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