ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy by Invitae

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Total variants: 60
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HGVS dbSNP
NM_001330723.2(SNX27):c.1046C>A (p.Ala349Asp)
NM_001330723.2(SNX27):c.1118A>G (p.Asn373Ser)
NM_001330723.2(SNX27):c.1122C>T (p.Asp374=) rs1158496817
NM_001330723.2(SNX27):c.1147C>G (p.Gln383Glu)
NM_001330723.2(SNX27):c.1149+10T>C rs368706118
NM_001330723.2(SNX27):c.1155C>T (p.Val385=) rs115166911
NM_001330723.2(SNX27):c.1156G>C (p.Asp386His) rs138859961
NM_001330723.2(SNX27):c.1170A>G (p.Lys390=) rs916854524
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.1218C>G (p.Tyr406Ter) rs201966711
NM_001330723.2(SNX27):c.1221A>G (p.Glu407=) rs1553264889
NM_001330723.2(SNX27):c.1237A>G (p.Met413Val) rs144336311
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)
NM_001330723.2(SNX27):c.1287T>C (p.Phe429=) rs1230597000
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.1329C>T (p.Ile443=) rs193058770
NM_001330723.2(SNX27):c.1346C>T (p.Thr449Met)
NM_001330723.2(SNX27):c.1365C>T (p.Ala455=) rs555284794
NM_001330723.2(SNX27):c.1427G>T (p.Arg476Leu) rs200106732
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.1517A>G (p.Tyr506Cys) rs1553266278
NM_001330723.2(SNX27):c.18G>A (p.Gly6=) rs551180149
NM_001330723.2(SNX27):c.234G>A (p.Leu78=) rs763585979
NM_001330723.2(SNX27):c.238C>G (p.His80Asp)
NM_001330723.2(SNX27):c.259G>T (p.Gly87Trp)
NM_001330723.2(SNX27):c.342C>T (p.His114=) rs777998061
NM_001330723.2(SNX27):c.388T>A (p.Leu130Met)
NM_001330723.2(SNX27):c.41C>T (p.Pro14Leu) rs965328686
NM_001330723.2(SNX27):c.422A>T (p.Asp141Val)
NM_001330723.2(SNX27):c.456A>G (p.Gln152=) rs774725804
NM_001330723.2(SNX27):c.543+6T>C
NM_001330723.2(SNX27):c.575T>A (p.Leu192Gln) rs1208840156
NM_001330723.2(SNX27):c.595G>C (p.Glu199Gln)
NM_001330723.2(SNX27):c.60_62CGG[5] (p.Gly25dup) rs567208173
NM_001330723.2(SNX27):c.60_62CGG[6] (p.Gly24_Gly25dup) rs567208173
NM_001330723.2(SNX27):c.676T>A (p.Ser226Thr) rs748735835
NM_001330723.2(SNX27):c.69C>T (p.Gly23=)
NM_001330723.2(SNX27):c.73G>T (p.Gly25Trp) rs1558028277
NM_001330723.2(SNX27):c.772A>G (p.Met258Val) rs146222009
NM_001330723.2(SNX27):c.786A>G (p.Leu262=) rs745510590
NM_001330723.2(SNX27):c.796G>A (p.Asp266Asn)
NM_001330723.2(SNX27):c.816G>A (p.Val272=) rs552371418
NM_001330723.2(SNX27):c.822C>T (p.Asp274=) rs771189015
NM_001330723.2(SNX27):c.848A>G (p.Asp283Gly) rs776237861
NM_001330723.2(SNX27):c.857C>T (p.Thr286Met)
NM_001330723.2(SNX27):c.862A>G (p.Thr288Ala)
NM_001330723.2(SNX27):c.883A>G (p.Ser295Gly) rs754578785
NM_001330723.2(SNX27):c.908C>T (p.Ala303Val)
NM_001330723.2(SNX27):c.913G>A (p.Ala305Thr)
NM_001330723.2(SNX27):c.938C>T (p.Thr313Met) rs140922236
NM_001330723.2(SNX27):c.942A>G (p.Thr314=) rs1553261783
NM_001330723.2(SNX27):c.967G>A (p.Val323Met) rs61762678
NM_001330723.2(SNX27):c.984T>C (p.Phe328=) rs150091333
NM_030918.6(SNX27):c.1356dup (p.Leu453fs) rs1553266166
NM_030918.6(SNX27):c.265dup (p.Ala89fs)

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