ClinVar Miner

List of variants reported as likely pathogenic for hereditary hyperekplexia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys) rs121908494 0.00004
NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp) rs751659671 0.00002
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter) rs752254977 0.00002
NM_000171.4(GLRA1):c.184+2T>C rs1754097992 0.00001
NM_000171.4(GLRA1):c.299G>A (p.Arg100His) rs281864914 0.00001
NM_000171.4(GLRA1):c.523A>G (p.Met175Val) rs121918414 0.00001
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met) rs781570584 0.00001
NM_001321967.2(ATAD1):c.1070_1071del (p.His357fs) rs751499706 0.00001
NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser) rs772652517 0.00001
NM_004211.5(SLC6A5):c.2070+1G>A rs770660705 0.00001
GRCh37/hg19 10q23.31(chr10:89549991-89550223)x0
NC_000004.11:g.(?_158091564)_(158091880_?)del
NC_000004.12:g.(?_157170412)_(157170748_?)del
NC_000011.9:g.(?_20668360)_(20668500_?)dup
NC_000023.10:g.(?_62875364)_(62944601_?)del
NM_000171.4(GLRA1):c.1246G>A (p.Asp416Asn) rs1181626947
NM_000171.4(GLRA1):c.1258C>T (p.Arg420Cys)
NM_000171.4(GLRA1):c.147del (p.Ser50fs)
NM_000171.4(GLRA1):c.184+1G>A
NM_000171.4(GLRA1):c.206G>A (p.Cys69Tyr) rs1581645142
NM_000171.4(GLRA1):c.277C>T (p.Arg93Trp) rs199547699
NM_000171.4(GLRA1):c.298C>A (p.Arg100Ser)
NM_000171.4(GLRA1):c.298del (p.Arg100fs) rs281864915
NM_000171.4(GLRA1):c.403del (p.His135fs) rs1581623798
NM_000171.4(GLRA1):c.503T>G (p.Met168Arg)
NM_000171.4(GLRA1):c.559+1G>A rs1581620729
NM_000171.4(GLRA1):c.560-1G>C rs748908505
NM_000171.4(GLRA1):c.697+1G>A rs1753002738
NM_000171.4(GLRA1):c.697+2T>A
NM_000171.4(GLRA1):c.698-2del rs1752914673
NM_000171.4(GLRA1):c.801G>T (p.Trp267Cys)
NM_000171.4(GLRA1):c.859A>G (p.Thr287Ala) rs1554083576
NM_000171.4(GLRA1):c.896G>T (p.Arg299Leu) rs121918408
NM_000171.4(GLRA1):c.913-1G>A
NM_000171.4(GLRA1):c.921dup (p.Val308fs)
NM_000824.5(GLRB):c.1414C>T (p.Arg472Ter)
NM_000824.5(GLRB):c.297+1G>T rs771465893
NM_001353921.2(ARHGEF9):c.1078-3T>G
NM_001353921.2(ARHGEF9):c.30+1G>A
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) rs1556401714
NM_001353921.2(ARHGEF9):c.334del (p.Ala112fs)
NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter) rs2052539418
NM_001353921.2(ARHGEF9):c.402+1G>A rs2052538764
NM_001353921.2(ARHGEF9):c.419G>A (p.Cys140Tyr)
NM_001353921.2(ARHGEF9):c.509_510del (p.Val170fs)
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg) rs1556389083
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
NM_001353921.2(ARHGEF9):c.921G>A (p.Trp307Ter)
NM_004211.5(SLC6A5):c.1260+1G>T rs2133788446
NM_004211.5(SLC6A5):c.1436_1737+314del
NM_004211.5(SLC6A5):c.1624+2T>C
NM_004211.5(SLC6A5):c.1641T>G (p.Phe547Leu) rs2133808393
NM_004211.5(SLC6A5):c.1651C>T (p.Pro551Ser)
NM_004211.5(SLC6A5):c.1738-1G>C
NM_004211.5(SLC6A5):c.1966T>C (p.Tyr656His)
NM_004211.5(SLC6A5):c.2070+2T>G
NM_004211.5(SLC6A5):c.2071-1G>A
NM_004211.5(SLC6A5):c.2076_2077insAA (p.Leu693fs)
NM_004211.5(SLC6A5):c.3+1G>T
NM_004211.5(SLC6A5):c.3+2T>C
NM_004211.5(SLC6A5):c.677del (p.Gly226fs)
NM_004211.5(SLC6A5):c.679+1G>A rs1590154255
NM_004211.5(SLC6A5):c.680-2A>G
NM_004211.5(SLC6A5):c.710T>C (p.Leu237Pro) rs2133774690
NM_004211.5(SLC6A5):c.811+1G>A
NM_004211.5(SLC6A5):c.975del (p.Lys325fs) rs2133775660
NM_004211.5(SLC6A5):c.985+1G>A

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