ClinVar Miner

List of variants in gene SNX27 reported as uncertain significance for obsolete Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP
NM_001330723.2(SNX27):c.1025A>G (p.Tyr342Cys)
NM_001330723.2(SNX27):c.1046C>A (p.Ala349Asp) rs771457853
NM_001330723.2(SNX27):c.106_120del (p.Gly36_Gly40del)
NM_001330723.2(SNX27):c.110G>A (p.Gly37Glu)
NM_001330723.2(SNX27):c.1118A>G (p.Asn373Ser) rs149636067
NM_001330723.2(SNX27):c.1124T>G (p.Leu375Arg)
NM_001330723.2(SNX27):c.1147C>G (p.Gln383Glu) rs758891209
NM_001330723.2(SNX27):c.1150-3T>C
NM_001330723.2(SNX27):c.1181A>C (p.Lys394Thr) rs1558073082
NM_001330723.2(SNX27):c.118G>A (p.Gly40Ser) rs1354158738
NM_001330723.2(SNX27):c.120C>T (p.Gly40=)
NM_001330723.2(SNX27):c.1214T>C (p.Leu405Pro)
NM_001330723.2(SNX27):c.1235T>A (p.Val412Asp)
NM_001330723.2(SNX27):c.1237A>G (p.Met413Val) rs144336311
NM_001330723.2(SNX27):c.1240-3T>A
NM_001330723.2(SNX27):c.1240-3T>C
NM_001330723.2(SNX27):c.1246A>G (p.Asn416Asp) rs1388451146
NM_001330723.2(SNX27):c.1258A>T (p.Thr420Ser) rs1399483139
NM_001330723.2(SNX27):c.1274A>G (p.Asn425Ser) rs768030688
NM_001330723.2(SNX27):c.1278A>T (p.Glu426Asp)
NM_001330723.2(SNX27):c.1289C>T (p.Pro430Leu)
NM_001330723.2(SNX27):c.1310G>C (p.Arg437Thr) rs1558078260
NM_001330723.2(SNX27):c.1324G>A (p.Val442Ile) rs149937418
NM_001330723.2(SNX27):c.1346C>T (p.Thr449Met) rs754928412
NM_001330723.2(SNX27):c.1348C>T (p.His450Tyr)
NM_001330723.2(SNX27):c.1427G>T (p.Arg476Leu) rs200106732
NM_001330723.2(SNX27):c.1438G>C (p.Asp480His)
NM_001330723.2(SNX27):c.1465G>A (p.Glu489Lys) rs1400115897
NM_001330723.2(SNX27):c.1493G>A (p.Arg498Gln) rs1558078709
NM_001330723.2(SNX27):c.1495T>C (p.Trp499Arg)
NM_001330723.2(SNX27):c.1517A>G (p.Tyr506Cys) rs1553266278
NM_001330723.2(SNX27):c.1571G>A (p.Arg524Lys)
NM_001330723.2(SNX27):c.17G>A (p.Gly6Glu)
NM_001330723.2(SNX27):c.211A>G (p.Asn71Asp)
NM_001330723.2(SNX27):c.213C>G (p.Asn71Lys)
NM_001330723.2(SNX27):c.238C>G (p.His80Asp) rs1571741601
NM_001330723.2(SNX27):c.259G>T (p.Gly87Trp) rs750944911
NM_001330723.2(SNX27):c.260G>C (p.Gly87Ala)
NM_001330723.2(SNX27):c.263G>C (p.Gly88Ala)
NM_001330723.2(SNX27):c.264G>T (p.Gly88=)
NM_001330723.2(SNX27):c.275G>T (p.Arg92Leu)
NM_001330723.2(SNX27):c.292G>A (p.Gly98Arg)
NM_001330723.2(SNX27):c.317A>C (p.His106Pro)
NM_001330723.2(SNX27):c.323A>G (p.Asn108Ser)
NM_001330723.2(SNX27):c.388T>A (p.Leu130Met) rs767929616
NM_001330723.2(SNX27):c.40C>A (p.Pro14Thr)
NM_001330723.2(SNX27):c.40C>T (p.Pro14Ser)
NM_001330723.2(SNX27):c.41C>T (p.Pro14Leu) rs965328686
NM_001330723.2(SNX27):c.422A>T (p.Asp141Val) rs1300183081
NM_001330723.2(SNX27):c.456A>G (p.Gln152=) rs774725804
NM_001330723.2(SNX27):c.49A>C (p.Asn17His)
NM_001330723.2(SNX27):c.527A>G (p.Asn176Ser)
NM_001330723.2(SNX27):c.543+6T>C rs1571793465
NM_001330723.2(SNX27):c.575T>A (p.Leu192Gln) rs1208840156
NM_001330723.2(SNX27):c.595G>C (p.Glu199Gln) rs1176950317
NM_001330723.2(SNX27):c.60_62CGG[6] (p.Gly24_Gly25dup) rs567208173
NM_001330723.2(SNX27):c.632T>A (p.Phe211Tyr)
NM_001330723.2(SNX27):c.656T>C (p.Leu219Pro)
NM_001330723.2(SNX27):c.676T>A (p.Ser226Thr) rs748735835
NM_001330723.2(SNX27):c.69C>T (p.Gly23=) rs752312603
NM_001330723.2(SNX27):c.707G>A (p.Arg236His)
NM_001330723.2(SNX27):c.73G>T (p.Gly25Trp) rs1558028277
NM_001330723.2(SNX27):c.755T>C (p.Ile252Thr)
NM_001330723.2(SNX27):c.796G>A (p.Asp266Asn) rs779687444
NM_001330723.2(SNX27):c.820G>A (p.Asp274Asn)
NM_001330723.2(SNX27):c.823G>A (p.Val275Ile)
NM_001330723.2(SNX27):c.848A>G (p.Asp283Gly) rs776237861
NM_001330723.2(SNX27):c.857C>A (p.Thr286Lys)
NM_001330723.2(SNX27):c.857C>T (p.Thr286Met) rs540042464
NM_001330723.2(SNX27):c.862A>G (p.Thr288Ala) rs1198073102
NM_001330723.2(SNX27):c.883A>G (p.Ser295Gly) rs754578785
NM_001330723.2(SNX27):c.908C>T (p.Ala303Val) rs751034029
NM_001330723.2(SNX27):c.913G>A (p.Ala305Thr) rs778236794
NM_001330723.2(SNX27):c.913G>T (p.Ala305Ser)
NM_001330723.2(SNX27):c.914C>T (p.Ala305Val)
NM_001330723.2(SNX27):c.921G>C (p.Lys307Asn)
NM_001330723.2(SNX27):c.92C>T (p.Ala31Val)
NM_001330723.2(SNX27):c.938C>T (p.Thr313Met) rs140922236
NM_001330723.2(SNX27):c.980C>T (p.Ser327Phe)

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