ClinVar Miner

List of variants reported as likely benign for H syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_018344.6(SLC29A3):c.128T>G (p.Leu43Arg) rs146764905 0.00229
NM_018344.6(SLC29A3):c.74G>A (p.Arg25Gln) rs138976786 0.00149
NM_018344.6(SLC29A3):c.630G>A (p.Thr210=) rs148484611 0.00047
NM_018344.6(SLC29A3):c.610+16C>T rs202017138 0.00046
NM_018344.6(SLC29A3):c.300+10del rs770787764 0.00039
NM_018344.6(SLC29A3):c.1134G>A (p.Ala378=) rs141392389 0.00036
NM_018344.6(SLC29A3):c.117G>A (p.Pro39=) rs369344337 0.00016
NM_018344.6(SLC29A3):c.972C>T (p.Pro324=) rs149876239 0.00016
NM_018344.6(SLC29A3):c.987C>T (p.Asn329=) rs147814367 0.00016
NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=) rs373404056 0.00014
NM_018344.6(SLC29A3):c.895C>T (p.Arg299Cys) rs190003480 0.00014
NM_018344.6(SLC29A3):c.1011G>A (p.Ser337=) rs151273259 0.00012
NM_018344.6(SLC29A3):c.855G>A (p.Ser285=) rs566110994 0.00010
NM_018344.6(SLC29A3):c.120C>T (p.Pro40=) rs752818853 0.00008
NM_018344.6(SLC29A3):c.1098C>T (p.Thr366=) rs747396162 0.00006
NM_018344.6(SLC29A3):c.1416G>A (p.Val472=) rs572730455 0.00006
NM_018344.6(SLC29A3):c.561C>T (p.Tyr187=) rs773321774 0.00006
NM_018344.6(SLC29A3):c.570C>T (p.Thr190=) rs376124954 0.00006
NM_018344.6(SLC29A3):c.270C>T (p.Thr90=) rs745763781 0.00005
NM_018344.6(SLC29A3):c.798G>A (p.Ala266=) rs370631755 0.00005
NM_018344.6(SLC29A3):c.611-20G>A rs751652482 0.00004
NM_018344.6(SLC29A3):c.636C>T (p.Ser212=) rs769787723 0.00004
NM_018344.6(SLC29A3):c.708G>A (p.Thr236=) rs763763770 0.00004
NM_018344.6(SLC29A3):c.1173C>T (p.Pro391=) rs781693842 0.00003
NM_018344.6(SLC29A3):c.1203C>T (p.Arg401=) rs762952345 0.00003
NM_018344.6(SLC29A3):c.420G>A (p.Thr140=) rs374748823 0.00003
NM_018344.6(SLC29A3):c.1074T>A (p.Ala358=) rs779240655 0.00002
NM_018344.6(SLC29A3):c.1308C>T (p.Tyr436=) rs768605042 0.00002
NM_018344.6(SLC29A3):c.18G>A (p.Glu6=) rs758248725 0.00002
NM_018344.6(SLC29A3):c.300+7G>A rs768206919 0.00002
NM_018344.6(SLC29A3):c.639C>T (p.Ala213=) rs151009829 0.00002
NM_018344.6(SLC29A3):c.111C>T (p.Asp37=) rs773183035 0.00001
NM_018344.6(SLC29A3):c.1206C>T (p.Val402=) rs766571695 0.00001
NM_018344.6(SLC29A3):c.1233C>T (p.Ser411=) rs756751578 0.00001
NM_018344.6(SLC29A3):c.1278C>T (p.Asn426=) rs764543735 0.00001
NM_018344.6(SLC29A3):c.138C>T (p.Pro46=) rs374417695 0.00001
NM_018344.6(SLC29A3):c.144C>T (p.Asp48=) rs1845883638 0.00001
NM_018344.6(SLC29A3):c.165C>T (p.Ile55=) rs1845884793 0.00001
NM_018344.6(SLC29A3):c.193C>T (p.Leu65=) rs377119158 0.00001
NM_018344.6(SLC29A3):c.324C>T (p.Ala108=) rs753440225 0.00001
NM_018344.6(SLC29A3):c.384-10C>T rs772475005 0.00001
NM_018344.6(SLC29A3):c.454C>T (p.Leu152=) rs377174282 0.00001
NM_018344.6(SLC29A3):c.591C>T (p.Asn197=) rs1369949983 0.00001
NM_018344.6(SLC29A3):c.610+20C>A rs756459745 0.00001
NM_018344.6(SLC29A3):c.611-13C>G rs1436636899 0.00001
NM_018344.6(SLC29A3):c.624C>T (p.Gly208=) rs757865136 0.00001
NM_018344.6(SLC29A3):c.699C>T (p.Phe233=) rs769743060 0.00001
NM_018344.6(SLC29A3):c.723C>T (p.Leu241=) rs763353584 0.00001
NM_018344.6(SLC29A3):c.774-13C>T rs763377973 0.00001
NM_018344.6(SLC29A3):c.804T>C (p.His268=) rs896755457 0.00001
NM_018344.6(SLC29A3):c.981C>T (p.Cys327=) rs144433073 0.00001
NM_018344.6(SLC29A3):c.1+14G>C
NM_018344.6(SLC29A3):c.1+8C>T
NM_018344.6(SLC29A3):c.1005G>A (p.Lys335=)
NM_018344.6(SLC29A3):c.1041C>T (p.Ile347=)
NM_018344.6(SLC29A3):c.1068C>T (p.Asn356=) rs2131851729
NM_018344.6(SLC29A3):c.1078C>T (p.Leu360=) rs2131851749
NM_018344.6(SLC29A3):c.1122C>T (p.Pro374=) rs1391816956
NM_018344.6(SLC29A3):c.1125T>C (p.Asn375=)
NM_018344.6(SLC29A3):c.1173C>G (p.Pro391=)
NM_018344.6(SLC29A3):c.1179C>T (p.Phe393=)
NM_018344.6(SLC29A3):c.117G>T (p.Pro39=)
NM_018344.6(SLC29A3):c.1182G>C (p.Val394=)
NM_018344.6(SLC29A3):c.1185C>G (p.Leu395=)
NM_018344.6(SLC29A3):c.1194C>T (p.Tyr398=)
NM_018344.6(SLC29A3):c.1230G>A (p.Gln410=)
NM_018344.6(SLC29A3):c.1242C>T (p.Tyr414=)
NM_018344.6(SLC29A3):c.1269G>A (p.Gly423=) rs2131852171
NM_018344.6(SLC29A3):c.1287C>T (p.Leu429=)
NM_018344.6(SLC29A3):c.1323G>A (p.Val441=)
NM_018344.6(SLC29A3):c.1326C>T (p.Pro442=) rs759673817
NM_018344.6(SLC29A3):c.1375T>C (p.Leu459=)
NM_018344.6(SLC29A3):c.1380C>T (p.Gly460=) rs1589244911
NM_018344.6(SLC29A3):c.1383A>G (p.Leu461=)
NM_018344.6(SLC29A3):c.1389G>A (p.Leu463=)
NM_018344.6(SLC29A3):c.1392C>T (p.Gly464=)
NM_018344.6(SLC29A3):c.1419C>T (p.His473=) rs372551556
NM_018344.6(SLC29A3):c.159A>G (p.Thr53=) rs150354424
NM_018344.6(SLC29A3):c.159A>T (p.Thr53=) rs150354424
NM_018344.6(SLC29A3):c.177C>T (p.Ser59=) rs760763432
NM_018344.6(SLC29A3):c.192T>C (p.Ser64=)
NM_018344.6(SLC29A3):c.198G>T (p.Leu66=)
NM_018344.6(SLC29A3):c.2-12T>C rs2131796408
NM_018344.6(SLC29A3):c.2-6C>T rs1845876677
NM_018344.6(SLC29A3):c.201A>G (p.Pro67=)
NM_018344.6(SLC29A3):c.21C>T (p.Asp7=) rs746298917
NM_018344.6(SLC29A3):c.225G>A (p.Lys75=) rs543016261
NM_018344.6(SLC29A3):c.231C>T (p.Tyr77=)
NM_018344.6(SLC29A3):c.273G>C (p.Gly91=)
NM_018344.6(SLC29A3):c.300+11G>A
NM_018344.6(SLC29A3):c.300+14T>A
NM_018344.6(SLC29A3):c.301-10G>A
NM_018344.6(SLC29A3):c.301-11T>G rs2131827560
NM_018344.6(SLC29A3):c.301-15C>T
NM_018344.6(SLC29A3):c.301-16A>C
NM_018344.6(SLC29A3):c.301-6T>C rs571102657
NM_018344.6(SLC29A3):c.330C>G (p.Ala110=)
NM_018344.6(SLC29A3):c.330C>T (p.Ala110=)
NM_018344.6(SLC29A3):c.339G>A (p.Val113=) rs1476419275
NM_018344.6(SLC29A3):c.342C>T (p.Pro114=)
NM_018344.6(SLC29A3):c.369C>T (p.Phe123=)
NM_018344.6(SLC29A3):c.372G>A (p.Leu124=)
NM_018344.6(SLC29A3):c.372G>T (p.Leu124=)
NM_018344.6(SLC29A3):c.383+11C>G
NM_018344.6(SLC29A3):c.383+7_383+8delinsAG rs1589232669
NM_018344.6(SLC29A3):c.384-15G>T
NM_018344.6(SLC29A3):c.384-18C>G rs2131838837
NM_018344.6(SLC29A3):c.384-7G>A
NM_018344.6(SLC29A3):c.384-8C>T
NM_018344.6(SLC29A3):c.414A>G (p.Ser138=) rs769835923
NM_018344.6(SLC29A3):c.432C>T (p.Ala144=)
NM_018344.6(SLC29A3):c.453A>G (p.Ala151=)
NM_018344.6(SLC29A3):c.474C>G (p.Ser158=)
NM_018344.6(SLC29A3):c.474C>T (p.Ser158=) rs769083926
NM_018344.6(SLC29A3):c.477C>T (p.Ser159=)
NM_018344.6(SLC29A3):c.498G>A (p.Ala166=)
NM_018344.6(SLC29A3):c.510C>G (p.Val170=)
NM_018344.6(SLC29A3):c.510C>T (p.Val170=)
NM_018344.6(SLC29A3):c.51_52inv (p.Arg18Gly)
NM_018344.6(SLC29A3):c.525C>T (p.Leu175=)
NM_018344.6(SLC29A3):c.528C>T (p.Ser176=)
NM_018344.6(SLC29A3):c.549C>T (p.Ser183=) rs2131839283
NM_018344.6(SLC29A3):c.552C>T (p.Ser184=)
NM_018344.6(SLC29A3):c.57C>G (p.Thr19=)
NM_018344.6(SLC29A3):c.586A>C (p.Arg196=)
NM_018344.6(SLC29A3):c.610+10A>G
NM_018344.6(SLC29A3):c.610+12G>A
NM_018344.6(SLC29A3):c.610+13G>A
NM_018344.6(SLC29A3):c.610+17G>A
NM_018344.6(SLC29A3):c.610+17G>C
NM_018344.6(SLC29A3):c.611-11G>A
NM_018344.6(SLC29A3):c.611-19T>G
NM_018344.6(SLC29A3):c.611-8C>G rs758975664
NM_018344.6(SLC29A3):c.696C>G (p.Ala232=) rs2131844391
NM_018344.6(SLC29A3):c.6C>T (p.Ala2=)
NM_018344.6(SLC29A3):c.711C>T (p.Ala237=)
NM_018344.6(SLC29A3):c.714T>G (p.Thr238=)
NM_018344.6(SLC29A3):c.751C>T (p.Leu251=) rs1249645317
NM_018344.6(SLC29A3):c.753G>C (p.Leu251=)
NM_018344.6(SLC29A3):c.773+13C>T
NM_018344.6(SLC29A3):c.773+18del
NM_018344.6(SLC29A3):c.774-10C>G rs1312997063
NM_018344.6(SLC29A3):c.837C>T (p.Asp279=)
NM_018344.6(SLC29A3):c.894C>G (p.Leu298=) rs748117635
NM_018344.6(SLC29A3):c.897C>T (p.Arg299=)
NM_018344.6(SLC29A3):c.903C>T (p.Ile301=) rs2131851352
NM_018344.6(SLC29A3):c.915G>A (p.Thr305=)
NM_018344.6(SLC29A3):c.927C>T (p.Gly309=)
NM_018344.6(SLC29A3):c.942C>T (p.Tyr314=)
NM_018344.6(SLC29A3):c.972C>A (p.Pro324=)
NM_018344.6(SLC29A3):c.990C>A (p.Ile330=)
NM_018344.6(SLC29A3):c.990C>T (p.Ile330=)

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