ClinVar Miner

List of variants in gene SLC39A13 reported as uncertain significance for Ehlers-Danlos syndrome, spondylodysplastic type

Included ClinVar conditions (7):
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Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_001128225.3(SLC39A13):c.571G>A (p.Ala191Thr) rs138998777 0.00061
NM_001128225.3(SLC39A13):c.55C>T (p.Leu19Phe) rs61995938 0.00028
NM_001128225.3(SLC39A13):c.104C>T (p.Pro35Leu) rs374680665 0.00014
NM_001128225.3(SLC39A13):c.635G>A (p.Arg212Gln) rs200490683 0.00013
NM_001128225.3(SLC39A13):c.302-3T>C rs371414744 0.00012
NM_001128225.3(SLC39A13):c.1043G>A (p.Arg348His) rs770908923 0.00006
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu) rs542593908 0.00006
NM_001128225.3(SLC39A13):c.889G>A (p.Ala297Thr) rs374739509 0.00005
NM_001128225.3(SLC39A13):c.1046C>T (p.Ser349Phe) rs376076637 0.00004
NM_001128225.3(SLC39A13):c.116G>A (p.Ser39Asn) rs775918761 0.00004
NM_001128225.3(SLC39A13):c.118C>T (p.Arg40Trp) rs368796707 0.00004
NM_001128225.3(SLC39A13):c.23G>T (p.Gly8Val) rs779570378 0.00004
NM_001128225.3(SLC39A13):c.314G>A (p.Arg105His) rs762900525 0.00004
NM_001128225.3(SLC39A13):c.491C>T (p.Ala164Val) rs914512778 0.00004
NM_001128225.3(SLC39A13):c.640A>G (p.Ile214Val) rs750123189 0.00004
NM_001128225.3(SLC39A13):c.833G>C (p.Ser278Thr) rs370516835 0.00004
NM_001128225.3(SLC39A13):c.95G>T (p.Gly32Val) rs754558033 0.00004
NM_001128225.3(SLC39A13):c.139C>T (p.Arg47Cys) rs766701277 0.00003
NM_001128225.3(SLC39A13):c.786+6C>T rs779162662 0.00003
NM_001128225.3(SLC39A13):c.919+4C>T rs368667805 0.00003
NM_001128225.3(SLC39A13):c.112C>T (p.Arg38Trp) rs149930229 0.00002
NM_001128225.3(SLC39A13):c.191G>A (p.Arg64Gln) rs368519440 0.00002
NM_001128225.3(SLC39A13):c.286A>G (p.Met96Val) rs895559794 0.00002
NM_001128225.3(SLC39A13):c.35C>T (p.Ala12Val) rs556023069 0.00002
NM_001128225.3(SLC39A13):c.38G>T (p.Gly13Val) rs148165667 0.00002
NM_001128225.3(SLC39A13):c.403A>G (p.Ser135Gly) rs377518253 0.00002
NM_001128225.3(SLC39A13):c.584G>A (p.Gly195Asp) rs750069673 0.00002
NM_001128225.3(SLC39A13):c.1108G>A (p.Val370Met) rs772789507 0.00001
NM_001128225.3(SLC39A13):c.1116A>G (p.Ter372=) rs762617893 0.00001
NM_001128225.3(SLC39A13):c.113G>A (p.Arg38Gln) rs770839268 0.00001
NM_001128225.3(SLC39A13):c.128C>T (p.Ala43Val) rs762413647 0.00001
NM_001128225.3(SLC39A13):c.140G>A (p.Arg47His) rs754538699 0.00001
NM_001128225.3(SLC39A13):c.149A>G (p.Asn50Ser) rs563652715 0.00001
NM_001128225.3(SLC39A13):c.184G>A (p.Gly62Arg) rs200726045 0.00001
NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp) rs121434363 0.00001
NM_001128225.3(SLC39A13):c.234G>A (p.Val78=) rs140298838 0.00001
NM_001128225.3(SLC39A13):c.284C>T (p.Thr95Ile) rs1317018795 0.00001
NM_001128225.3(SLC39A13):c.292C>T (p.Arg98Cys) rs369854018 0.00001
NM_001128225.3(SLC39A13):c.313C>T (p.Arg105Cys) rs374468349 0.00001
NM_001128225.3(SLC39A13):c.31A>G (p.Met11Val) rs768592866 0.00001
NM_001128225.3(SLC39A13):c.355G>T (p.Gly119Cys) rs892859231 0.00001
NM_001128225.3(SLC39A13):c.392C>T (p.Ala131Val) rs370161381 0.00001
NM_001128225.3(SLC39A13):c.427C>T (p.Gln143Ter) rs752159748 0.00001
NM_001128225.3(SLC39A13):c.487C>G (p.Leu163Val) rs2096004287 0.00001
NM_001128225.3(SLC39A13):c.572C>T (p.Ala191Val) rs200688736 0.00001
NM_001128225.3(SLC39A13):c.578A>G (p.Asn193Ser) rs746264976 0.00001
NM_001128225.3(SLC39A13):c.589T>C (p.Cys197Arg) rs779407804 0.00001
NM_001128225.3(SLC39A13):c.736A>G (p.Ile246Val) rs767784704 0.00001
NM_001128225.3(SLC39A13):c.767T>C (p.Leu256Pro) rs924156969 0.00001
NM_001128225.3(SLC39A13):c.817G>A (p.Gly273Ser) rs199989846 0.00001
NM_001128225.3(SLC39A13):c.823G>C (p.Asp275His) rs1484874346 0.00001
NM_001128225.3(SLC39A13):c.850C>G (p.Leu284Val) rs1300393650 0.00001
NM_001128225.3(SLC39A13):c.991A>G (p.Ile331Val) rs1407619087 0.00001
NM_001128225.3(SLC39A13):c.-9+256T>C
NM_001128225.3(SLC39A13):c.1000G>A (p.Val334Met) rs1595887083
NM_001128225.3(SLC39A13):c.1010T>C (p.Leu337Pro) rs2153301868
NM_001128225.3(SLC39A13):c.1037C>G (p.Pro346Arg)
NM_001128225.3(SLC39A13):c.1051C>T (p.Gln351Ter)
NM_001128225.3(SLC39A13):c.1094T>C (p.Leu365Pro) rs2096021765
NM_001128225.3(SLC39A13):c.109C>T (p.Leu37Phe)
NM_001128225.3(SLC39A13):c.1100C>T (p.Ser367Leu) rs777112793
NM_001128225.3(SLC39A13):c.131C>T (p.Thr44Met)
NM_001128225.3(SLC39A13):c.133G>A (p.Ala45Thr)
NM_001128225.3(SLC39A13):c.134C>T (p.Ala45Val) rs2095991241
NM_001128225.3(SLC39A13):c.163T>C (p.Ser55Pro)
NM_001128225.3(SLC39A13):c.166dup (p.Trp56fs)
NM_001128225.3(SLC39A13):c.185G>C (p.Gly62Ala) rs1565660438
NM_001128225.3(SLC39A13):c.211T>C (p.Ser71Pro) rs983983551
NM_001128225.3(SLC39A13):c.255_269del (p.Leu87_Leu91del) rs2095992049
NM_001128225.3(SLC39A13):c.265A>G (p.Ile89Val) rs754729494
NM_001128225.3(SLC39A13):c.299A>C (p.Glu100Ala) rs2153291853
NM_001128225.3(SLC39A13):c.301+5G>A rs1351664483
NM_001128225.3(SLC39A13):c.302C>T (p.Ala101Val) rs2153295514
NM_001128225.3(SLC39A13):c.323A>G (p.Gln108Arg) rs1565662802
NM_001128225.3(SLC39A13):c.325C>G (p.Leu109Val) rs146848042
NM_001128225.3(SLC39A13):c.377dup (p.Pro127fs)
NM_001128225.3(SLC39A13):c.38G>C (p.Gly13Ala) rs148165667
NM_001128225.3(SLC39A13):c.497AGA[1] (p.Lys167del)
NM_001128225.3(SLC39A13):c.517_534del (p.Lys173_Ser178del)
NM_001128225.3(SLC39A13):c.530C>T (p.Thr177Ile) rs1555136368
NM_001128225.3(SLC39A13):c.634C>T (p.Arg212Trp)
NM_001128225.3(SLC39A13):c.644A>C (p.Lys215Thr) rs765944959
NM_001128225.3(SLC39A13):c.645+3G>A rs2153299338
NM_001128225.3(SLC39A13):c.652G>A (p.Gly218Ser)
NM_001128225.3(SLC39A13):c.694C>T (p.His232Tyr)
NM_001128225.3(SLC39A13):c.730_732AAG[1] (p.Lys245del) rs2153299658
NM_001128225.3(SLC39A13):c.786+5G>A rs1331180727
NM_001128225.3(SLC39A13):c.789G>A (p.Val263=) rs747750601
NM_001128225.3(SLC39A13):c.812G>C (p.Arg271Pro) rs376883075
NM_001128225.3(SLC39A13):c.849A>T (p.Gln283His) rs1468079148
NM_001128225.3(SLC39A13):c.863T>G (p.Leu288Arg)
NM_001128225.3(SLC39A13):c.86G>A (p.Arg29Lys) rs751210151
NM_001128225.3(SLC39A13):c.875T>G (p.Leu292Arg)
NM_001128225.3(SLC39A13):c.880G>A (p.Ala294Thr)
NM_001128225.3(SLC39A13):c.919+5G>A
NM_001128225.3(SLC39A13):c.943G>A (p.Glu315Lys)

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