ClinVar Miner

List of variants studied for neurovascular disorder by Center of Excellence for Medical Genomics, Chulalongkorn University

Included ClinVar conditions (164):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.2732T>G (p.Leu911Arg) rs2468098342
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) rs794726718
NM_001165963.4(SCN1A):c.2854T>A (p.Trp952Arg) rs121918737
NM_001165963.4(SCN1A):c.2946+2T>C rs797044985
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs) rs794726825
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.4924A>G (p.Arg1642Gly) rs2468340621
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.602+1G>A rs794726827
NM_001165963.4(SCN1A):c.659T>A (p.Val220Asp) rs2468233136
NM_001165963.4(SCN1A):c.828A>C (p.Lys276Asn) rs2468223021
NM_001376.5(DYNC1H1):c.25G>A (p.Gly9Ser) rs2047642901

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