ClinVar Miner

List of variants studied for obsolete Dravet syndrome by Revvity Omics, Revvity

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396 0.00013
NM_001032221.6(STXBP1):c.1084G>A (p.Val362Ile) rs1046891783 0.00001
NM_001127644.2(GABRA1):c.1156T>G (p.Leu386Val) rs771316858 0.00001
NM_001127644.2(GABRA1):c.611G>A (p.Arg204His) rs777320447 0.00001
NM_001032221.6(STXBP1):c.1008G>C (p.Gln336His)
NM_001032221.6(STXBP1):c.107T>A (p.Leu36Ter)
NM_001032221.6(STXBP1):c.10A>G (p.Ile4Val)
NM_001032221.6(STXBP1):c.1171G>A (p.Val391Ile)
NM_001032221.6(STXBP1):c.1359+1G>A rs796053370
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
NM_001032221.6(STXBP1):c.1658C>A (p.Ala553Asp)
NM_001032221.6(STXBP1):c.170-2A>G rs1554776674
NM_001032221.6(STXBP1):c.260_261del (p.Leu87fs)
NM_001032221.6(STXBP1):c.2T>A (p.Met1Lys)
NM_001032221.6(STXBP1):c.530C>T (p.Ala177Val)
NM_001032221.6(STXBP1):c.649C>T (p.Pro217Ser)
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val)
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_001032221.6(STXBP1):c.902+1G>A rs886041978
NM_001127644.2(GABRA1):c.187+8G>A
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.71G>C (p.Arg24Thr)
NM_001127644.2(GABRA1):c.730T>C (p.Phe244Leu)
NM_001127644.2(GABRA1):c.842C>A (p.Ala281Glu)
NM_001127644.2(GABRA1):c.955G>A (p.Val319Met) rs2113464702

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