ClinVar Miner

List of variants reported as likely benign for Dravet syndrome by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_030918.5(SNX27):c.1122C>T (p.Asp374=) rs1158496817
NM_030918.5(SNX27):c.1149+10T>C rs368706118
NM_030918.5(SNX27):c.1156G>C (p.Asp386His) rs138859961
NM_030918.5(SNX27):c.1170A>G (p.Lys390=) rs916854524
NM_030918.5(SNX27):c.1221A>G (p.Glu407=) rs1553264889
NM_030918.5(SNX27):c.1287T>C (p.Phe429=) rs1230597000
NM_030918.5(SNX27):c.1365C>T (p.Ala455=) rs555284794
NM_030918.5(SNX27):c.234G>A (p.Leu78=) rs763585979
NM_030918.5(SNX27):c.342C>T (p.His114=) rs777998061
NM_030918.5(SNX27):c.772A>G (p.Met258Val) rs146222009
NM_030918.5(SNX27):c.786A>G (p.Leu262=) rs745510590
NM_030918.5(SNX27):c.816G>A (p.Val272=) rs552371418
NM_030918.5(SNX27):c.822C>T (p.Asp274=) rs771189015
NM_030918.5(SNX27):c.942A>G (p.Thr314=) rs1553261783
NM_030918.5(SNX27):c.967G>A (p.Val323Met) rs61762678

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