ClinVar Miner

List of variants in gene SIX3 studied for holoprosencephaly 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_005413.4(SIX3):c.942A>G (p.Ala314=) rs338074 0.93956
NM_005413.4(SIX3):c.576C>T (p.Arg192=) rs182881 0.02708
NM_005413.4(SIX3):c.90G>T (p.Ala30=) rs78018362 0.01666
NM_005413.4(SIX3):c.525G>A (p.Gln175=) rs116680477 0.00907
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) rs199823175 0.00210
NM_005413.4(SIX3):c.720G>T (p.Ala240=) rs191012035 0.00185
NM_005413.4(SIX3):c.219C>T (p.Pro73=) rs186163123 0.00105
NM_005413.4(SIX3):c.369G>A (p.Glu123=) rs200331042 0.00088
NM_005413.4(SIX3):c.348C>T (p.Pro116=) rs573768953 0.00069
NM_005413.4(SIX3):c.824T>C (p.Ile275Thr) rs377320521 0.00047
NM_005413.4(SIX3):c.96C>T (p.Ser32=) rs202214767 0.00042
NM_005413.4(SIX3):c.947C>T (p.Thr316Ile) rs201922529 0.00030
NM_005413.4(SIX3):c.306G>A (p.Thr102=) rs201451750 0.00024
NM_005413.4(SIX3):c.831G>A (p.Pro277=) rs370941478 0.00022
NM_005413.4(SIX3):c.221C>G (p.Pro74Arg) rs771429347 0.00018
NM_005413.4(SIX3):c.206G>A (p.Gly69Asp) rs121917881 0.00017
NM_005413.4(SIX3):c.351G>A (p.Val117=) rs199742584 0.00009
NM_005413.4(SIX3):c.363G>T (p.Ala121=) rs376519917 0.00009
NM_005413.4(SIX3):c.830C>A (p.Pro277Gln) rs575632344 0.00007
NM_005413.4(SIX3):c.105G>T (p.Gly35=) rs779034696 0.00004
NM_005413.4(SIX3):c.127G>T (p.Gly43Cys) rs1436891421 0.00004
NM_005413.4(SIX3):c.164G>A (p.Gly55Glu) rs772677168 0.00004
NM_005413.4(SIX3):c.168C>T (p.Gly56=) rs760535753 0.00004
NM_005413.4(SIX3):c.807-7C>T rs758201999 0.00004
NM_005413.4(SIX3):c.887C>G (p.Ser296Trp) rs751280287 0.00004
NM_005413.4(SIX3):c.387G>A (p.Glu129=) rs1164238885 0.00003
NM_005413.4(SIX3):c.41T>G (p.Phe14Cys) rs748430037 0.00002
NM_005413.4(SIX3):c.19C>A (p.Leu7Ile) rs1490771348 0.00001
NM_005413.4(SIX3):c.216C>T (p.Ala72=) rs746201264 0.00001
NM_005413.4(SIX3):c.227A>T (p.Glu76Val) rs770543339 0.00001
NM_005413.4(SIX3):c.573C>T (p.Tyr191=) rs754178703 0.00001
NM_005413.4(SIX3):c.613G>C (p.Asp205His) rs886044000 0.00001
NM_005413.4(SIX3):c.664C>A (p.Arg222=) rs748952099 0.00001
NM_005413.4(SIX3):c.786C>A (p.Arg262=) rs778895549 0.00001
NM_005413.4(SIX3):c.891G>T (p.Pro297=) rs956722583 0.00001
NM_005413.3(SIX3):c.[206G>A;406_407dup]
NM_005413.4(SIX3):c.108C>T (p.Asn36=) rs1572623734
NM_005413.4(SIX3):c.111_128dup (p.Gly42_Gly47dup) rs768858586
NM_005413.4(SIX3):c.119GCG[3] (p.Gly43del)
NM_005413.4(SIX3):c.120C>A (p.Gly40=) rs2103641137
NM_005413.4(SIX3):c.124_141del (p.Gly42_Gly47del)
NM_005413.4(SIX3):c.126_173del (p.Gly43_Gly58del) rs747291764
NM_005413.4(SIX3):c.130_141dup (p.Gly47_Ser48insAlaGlyGlyGly)
NM_005413.4(SIX3):c.140G>T (p.Gly47Val) rs2103641181
NM_005413.4(SIX3):c.142_150del (p.Ser48_Gly50del)
NM_005413.4(SIX3):c.154A>T (p.Asn52Tyr)
NM_005413.4(SIX3):c.162G>A (p.Ala54=)
NM_005413.4(SIX3):c.169G>T (p.Gly57Cys) rs1344650194
NM_005413.4(SIX3):c.171C>T (p.Gly57=)
NM_005413.4(SIX3):c.172G>T (p.Gly58Cys)
NM_005413.4(SIX3):c.187GGC[10] (p.Gly69_Ser70insGlyGlyGly)
NM_005413.4(SIX3):c.187GGC[4] (p.Gly67_Gly69del)
NM_005413.4(SIX3):c.187GGC[6] (p.Gly69del)
NM_005413.4(SIX3):c.187GGC[8] (p.Gly69dup) rs555285206
NM_005413.4(SIX3):c.187GGC[9] (p.Gly69_Ser70insGlyGly)
NM_005413.4(SIX3):c.196G>A (p.Gly66Ser)
NM_005413.4(SIX3):c.205G>T (p.Gly69Cys)
NM_005413.4(SIX3):c.209C>G (p.Ser70Cys)
NM_005413.4(SIX3):c.20del (p.Leu7fs)
NM_005413.4(SIX3):c.215C>T (p.Ala72Val)
NM_005413.4(SIX3):c.226G>A (p.Glu76Lys)
NM_005413.4(SIX3):c.237G>C (p.Met79Ile)
NM_005413.4(SIX3):c.244C>T (p.Leu82=)
NM_005413.4(SIX3):c.246G>T (p.Leu82=)
NM_005413.4(SIX3):c.264G>A (p.Ser88=) rs2103641613
NM_005413.4(SIX3):c.275T>G (p.Val92Gly)
NM_005413.4(SIX3):c.294G>T (p.Thr98=)
NM_005413.4(SIX3):c.296_304dup (p.Glu101_Thr102insMetGluGlu)
NM_005413.4(SIX3):c.307G>C (p.Gly103Arg)
NM_005413.4(SIX3):c.338G>C (p.Trp113Ser) rs1572624000
NM_005413.4(SIX3):c.339G>T (p.Trp113Cys) rs137853021
NM_005413.4(SIX3):c.342G>T (p.Ser114=)
NM_005413.4(SIX3):c.377A>G (p.Asn126Ser)
NM_005413.4(SIX3):c.382C>T (p.His128Tyr)
NM_005413.4(SIX3):c.385G>T (p.Glu129Ter) rs387906867
NM_005413.4(SIX3):c.396G>A (p.Leu132=)
NM_005413.4(SIX3):c.39C>T (p.His13=)
NM_005413.4(SIX3):c.401C>A (p.Ala134Glu)
NM_005413.4(SIX3):c.402_416del (p.Arg135_Ala139del) rs2103641880
NM_005413.4(SIX3):c.406_407del (p.Ala136fs) rs753473749
NM_005413.4(SIX3):c.414C>T (p.Val138=)
NM_005413.4(SIX3):c.425del (p.Thr142fs)
NM_005413.4(SIX3):c.430A>G (p.Asn144Asp)
NM_005413.4(SIX3):c.436C>T (p.Arg146Cys)
NM_005413.4(SIX3):c.438C>T (p.Arg146=)
NM_005413.4(SIX3):c.441_451del (p.Leu148fs) rs1553337688
NM_005413.4(SIX3):c.465C>T (p.His155=)
NM_005413.4(SIX3):c.478G>A (p.Glu160Lys)
NM_005413.4(SIX3):c.486C>A (p.His162Gln)
NM_005413.4(SIX3):c.48G>A (p.Leu16=)
NM_005413.4(SIX3):c.507G>A (p.Trp169Ter) rs1558420022
NM_005413.4(SIX3):c.515C>G (p.Ala172Gly)
NM_005413.4(SIX3):c.52A>T (p.Asn18Tyr) rs551637040
NM_005413.4(SIX3):c.552A>G (p.Pro184=)
NM_005413.4(SIX3):c.556_557dup (p.Pro187fs) rs1572624159
NM_005413.4(SIX3):c.57C>T (p.Phe19=)
NM_005413.4(SIX3):c.581G>C (p.Arg194Pro) rs1666605262
NM_005413.4(SIX3):c.582C>T (p.Arg194=)
NM_005413.4(SIX3):c.588G>A (p.Lys196=)
NM_005413.4(SIX3):c.58G>T (p.Ala20Ser) rs200575650
NM_005413.4(SIX3):c.591C>T (p.Phe197=)
NM_005413.4(SIX3):c.602G>A (p.Arg201His) rs1553337714
NM_005413.4(SIX3):c.60C>A (p.Ala20=)
NM_005413.4(SIX3):c.61G>A (p.Asp21Asn)
NM_005413.4(SIX3):c.630G>A (p.Thr210=)
NM_005413.4(SIX3):c.630G>T (p.Thr210=)
NM_005413.4(SIX3):c.657C>T (p.Ser219=) rs1666606463
NM_005413.4(SIX3):c.65C>T (p.Ser22Phe)
NM_005413.4(SIX3):c.671G>A (p.Trp224Ter)
NM_005413.4(SIX3):c.676C>G (p.Leu226Val) rs121917878
NM_005413.4(SIX3):c.678A>G (p.Leu226=)
NM_005413.4(SIX3):c.686C>T (p.Pro229Leu) rs2103642448
NM_005413.4(SIX3):c.696_705del (p.Asn232fs) rs397515502
NM_005413.4(SIX3):c.6A>C (p.Val2=)
NM_005413.4(SIX3):c.714A>G (p.Glu238=) rs2103642488
NM_005413.4(SIX3):c.72C>G (p.His24Gln)
NM_005413.4(SIX3):c.749T>C (p.Val250Ala) rs121917880
NM_005413.4(SIX3):c.770G>C (p.Arg257Pro) rs121917879
NM_005413.4(SIX3):c.785G>A (p.Arg262His)
NM_005413.4(SIX3):c.789C>A (p.Ala263=) rs747936516
NM_005413.4(SIX3):c.79A>G (p.Ile27Val) rs773982749
NM_005413.4(SIX3):c.807-15C>G
NM_005413.4(SIX3):c.807-6C>T
NM_005413.4(SIX3):c.831G>C (p.Pro277=) rs370941478
NM_005413.4(SIX3):c.839T>A (p.Met280Lys)
NM_005413.4(SIX3):c.840G>A (p.Met280Ile)
NM_005413.4(SIX3):c.841C>A (p.Arg281Ser)
NM_005413.4(SIX3):c.843C>A (p.Arg281=) rs1478418886
NM_005413.4(SIX3):c.856C>T (p.Pro286Ser)
NM_005413.4(SIX3):c.86T>C (p.Leu29Pro)
NM_005413.4(SIX3):c.882A>G (p.Ala294=) rs2103645485
NM_005413.4(SIX3):c.890C>T (p.Pro297Leu)
NM_005413.4(SIX3):c.905_913del (p.Ser302_Thr304del)
NM_005413.4(SIX3):c.909G>C (p.Pro303=) rs560888073
NM_005413.4(SIX3):c.912C>T (p.Thr304=)
NM_005413.4(SIX3):c.917G>A (p.Ser306Asn)
NM_005413.4(SIX3):c.92G>C (p.Ser31Thr) rs2103641025
NM_005413.4(SIX3):c.933G>A (p.Thr311=)
NM_005413.4(SIX3):c.935A>G (p.Glu312Gly)
NM_005413.4(SIX3):c.943G>A (p.Asp315Asn)
NM_005413.4(SIX3):c.949G>A (p.Gly317Ser) rs2103645634
NM_005413.4(SIX3):c.949G>C (p.Gly317Arg) rs2103645634
NM_005413.4(SIX3):c.961C>T (p.Leu321Phe) rs199795275
NM_005413.4(SIX3):c.985G>C (p.Glu329Gln)

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