ClinVar Miner

List of variants reported as benign for Dravet syndrome

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2947-41C>T rs7601520 0.73875
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_001330723.2(SNX27):c.1155C>T (p.Val385=) rs115166911 0.00687
NM_001330723.2(SNX27):c.984T>C (p.Phe328=) rs150091333 0.00443
NM_001330723.2(SNX27):c.801+18T>A rs115780664 0.00365
NM_001330723.2(SNX27):c.18G>A (p.Gly6=) rs551180149 0.00236
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_001330723.2(SNX27):c.986-20G>C rs199670160 0.00083
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001330723.2(SNX27):c.1389+17G>A rs185748265 0.00017
NM_001330723.2(SNX27):c.1329C>T (p.Ile443=) rs193058770 0.00010
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_001330723.2(SNX27):c.1578+118G>A rs143574605 0.00002
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001330723.2(SNX27):c.1240-3del
NM_001330723.2(SNX27):c.1240-3dup rs61159507
NM_001330723.2(SNX27):c.1240-4_1240-3del rs61159507
NM_001330723.2(SNX27):c.1519-4dup rs540332829
NM_001330723.2(SNX27):c.60CGG[5] (p.Gly25dup) rs567208173
NM_001330723.2(SNX27):c.801+19del rs2102681542
NM_001365536.1(SCN9A):c.*2616_*2626del rs145255931
NM_001365536.1(SCN9A):c.*798dup rs564394161
NM_001365536.1(SCN9A):c.1975-3dup rs35888674

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