ClinVar Miner

List of variants reported as benign for Dravet syndrome by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001330723.2(SNX27):c.1155C>T (p.Val385=) rs115166911
NM_001330723.2(SNX27):c.1329C>T (p.Ile443=) rs193058770
NM_001330723.2(SNX27):c.18G>A (p.Gly6=) rs551180149
NM_001330723.2(SNX27):c.60_62CGG[5] (p.Gly25dup) rs567208173
NM_001330723.2(SNX27):c.984T>C (p.Phe328=) rs150091333

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