ClinVar Miner

List of variants studied for obsolete Dravet syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.1462-2A>C
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001032221.6(STXBP1):c.170-2A>G rs1554776674
NM_001032221.6(STXBP1):c.1716C>G (p.Ile572Met)
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_001032221.6(STXBP1):c.37+1_37+2delinsA
NM_001032221.6(STXBP1):c.37+2dup rs1838431452
NM_001032221.6(STXBP1):c.386_393delinsATCTGA (p.Thr129fs)
NM_001032221.6(STXBP1):c.392C>T (p.Thr131Met) rs2131455010
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032221.6(STXBP1):c.794+1G>A rs1554777496
NM_001032221.6(STXBP1):c.795-1G>A rs1554777708
NM_001032221.6(STXBP1):c.842T>C (p.Leu281Pro) rs2131481488
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032221.6(STXBP1):c.92T>C (p.Leu31Pro)
NM_001165963.4(SCN1A):c.1486del (p.Glu496fs) rs2105851829
NM_001165963.4(SCN1A):c.1883C>A (p.Ser628Ter) rs1697440060
NM_001165963.4(SCN1A):c.2722G>A (p.Gly908Ser) rs796052984
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) rs1553525325
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp) rs1691073965
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.5602_5603insATCC (p.Leu1868fs)

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