ClinVar Miner

List of variants studied for obsolete Dravet syndrome by Baylor Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
GRCh37/hg19 9q33.3(chr9:129414011-129460757)
GRCh37/hg19 9q34.11(chr9:130335766-130517907)
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu) rs1559152754
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala) rs1057518671
NM_003165.4(STXBP1):c.170-2A>G rs1554776674
NM_003165.4(STXBP1):c.533C>T (p.Thr178Ile) rs1564350546
NM_003165.4(STXBP1):c.578+1G>A rs796053357
NM_003165.4(STXBP1):c.79G>T (p.Glu27Ter) rs1564346538
NM_006920.6(SCN1A):c.4100A>T (p.Asn1367Ile) rs1131691775

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