ClinVar Miner

List of variants studied for sinus histiocytosis with massive lymphadenopathy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 447
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HGVS dbSNP gnomAD frequency
NM_018344.6(SLC29A3):c.383+8A>G rs2243540 0.87959
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val) rs2487068 0.87306
NM_018344.6(SLC29A3):c.714T>C (p.Thr238=) rs2252997 0.87276
NM_018344.6(SLC29A3):c.715G>A (p.Val239Ile) rs2252996 0.84751
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=) rs1084004 0.84205
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61569
NM_018344.6(SLC29A3):c.52A>G (p.Arg18Gly) rs2277257 0.47837
NM_018344.6(SLC29A3):c.597G>A (p.Gln199=) rs16928737 0.03555
NM_018344.6(SLC29A3):c.842T>C (p.Leu281Pro) rs79737301 0.01835
NM_018344.6(SLC29A3):c.831C>T (p.Pro277=) rs61737431 0.01828
NM_018344.6(SLC29A3):c.304T>C (p.Tyr102His) rs77339410 0.01738
NM_018344.6(SLC29A3):c.300+3A>G rs7083031 0.01144
NM_018344.6(SLC29A3):c.488G>T (p.Gly163Val) rs143557881 0.00485
NM_018344.6(SLC29A3):c.618C>T (p.Ala206=) rs141413620 0.00398
NM_018344.6(SLC29A3):c.2-17C>T rs80223748 0.00381
NM_018344.6(SLC29A3):c.1137C>T (p.Leu379=) rs115006556 0.00287
NM_018344.6(SLC29A3):c.1001A>G (p.Asn334Ser) rs144665176 0.00255
NM_018344.6(SLC29A3):c.1146C>T (p.Phe382=) rs148092033 0.00239
NM_018344.6(SLC29A3):c.128T>G (p.Leu43Arg) rs146764905 0.00229
NM_018344.6(SLC29A3):c.383+6C>T rs77626641 0.00190
NM_018344.6(SLC29A3):c.74G>A (p.Arg25Gln) rs138976786 0.00149
NM_018344.6(SLC29A3):c.687C>T (p.Ser229=) rs113542201 0.00142
NM_018344.6(SLC29A3):c.946T>G (p.Phe316Val) rs139066012 0.00076
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.688G>A (p.Ala230Thr) rs147701543 0.00043
NM_018344.6(SLC29A3):c.629C>T (p.Thr210Met) rs146654579 0.00042
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.325G>A (p.Val109Ile) rs138640615 0.00033
NM_018344.6(SLC29A3):c.707C>T (p.Thr236Met) rs147552838 0.00029
NM_018344.6(SLC29A3):c.1202G>A (p.Arg401His) rs199861210 0.00022
NM_018344.6(SLC29A3):c.484C>T (p.Arg162Cys) rs148381602 0.00019
NM_018344.6(SLC29A3):c.506T>C (p.Ile169Thr) rs139333654 0.00019
NM_018344.6(SLC29A3):c.640G>A (p.Val214Met) rs200339271 0.00019
NM_018344.6(SLC29A3):c.991G>A (p.Glu331Lys) rs200004327 0.00018
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.637G>A (p.Ala213Thr) rs142645681 0.00014
NM_018344.6(SLC29A3):c.895C>T (p.Arg299Cys) rs190003480 0.00014
NM_018344.6(SLC29A3):c.269C>T (p.Thr90Ile) rs138389471 0.00013
NM_018344.6(SLC29A3):c.973G>A (p.Ala325Thr) rs144183340 0.00013
NM_018344.6(SLC29A3):c.1011G>A (p.Ser337=) rs151273259 0.00012
NM_018344.6(SLC29A3):c.914C>T (p.Thr305Met) rs201088617 0.00012
NM_018344.6(SLC29A3):c.68G>A (p.Ser23Asn) rs146423891 0.00011
NM_018344.6(SLC29A3):c.774-6C>T rs185479915 0.00011
NM_018344.6(SLC29A3):c.862T>A (p.Ser288Thr) rs368747183 0.00011
NM_018344.6(SLC29A3):c.248G>A (p.Arg83His) rs370566644 0.00010
NM_018344.6(SLC29A3):c.855G>A (p.Ser285=) rs566110994 0.00010
NM_018344.6(SLC29A3):c.199C>T (p.Pro67Ser) rs142216905 0.00009
NM_018344.6(SLC29A3):c.22G>A (p.Asp8Asn) rs558547846 0.00009
NM_018344.6(SLC29A3):c.120C>T (p.Pro40=) rs752818853 0.00008
NM_018344.6(SLC29A3):c.347T>G (p.Met116Arg) rs267607057 0.00008
NM_018344.6(SLC29A3):c.365A>G (p.Asn122Ser) rs772599816 0.00008
NM_018344.6(SLC29A3):c.674A>G (p.Asp225Gly) rs140852642 0.00008
NM_018344.6(SLC29A3):c.385G>A (p.Val129Ile) rs768974539 0.00007
NM_018344.6(SLC29A3):c.1098C>T (p.Thr366=) rs747396162 0.00006
NM_018344.6(SLC29A3):c.1124A>G (p.Asn375Ser) rs150398575 0.00006
NM_018344.6(SLC29A3):c.1133C>T (p.Ala378Val) rs564770014 0.00006
NM_018344.6(SLC29A3):c.113G>A (p.Arg38His) rs201238600 0.00006
NM_018344.6(SLC29A3):c.1180G>A (p.Val394Met) rs770560831 0.00006
NM_018344.6(SLC29A3):c.1204G>A (p.Val402Ile) rs1009541174 0.00006
NM_018344.6(SLC29A3):c.1309G>A (p.Gly437Arg) rs121912584 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.770C>T (p.Ala257Val) rs148164425 0.00006
NM_018344.6(SLC29A3):c.112C>T (p.Arg38Cys) rs143154754 0.00005
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.1010C>T (p.Ser337Leu) rs200249218 0.00004
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp) rs387907067 0.00004
NM_018344.6(SLC29A3):c.1201C>T (p.Arg401Cys) rs746998307 0.00004
NM_018344.6(SLC29A3):c.247C>T (p.Arg83Cys) rs773118427 0.00004
NM_018344.6(SLC29A3):c.337G>A (p.Val113Met) rs180984559 0.00004
NM_018344.6(SLC29A3):c.419C>T (p.Thr140Met) rs374153053 0.00004
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.830C>T (p.Pro277Leu) rs146113694 0.00004
NM_018344.6(SLC29A3):c.1099G>A (p.Ala367Thr) rs769137288 0.00003
NM_018344.6(SLC29A3):c.1168A>T (p.Ile390Phe) rs780141497 0.00003
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.146G>C (p.Arg49Pro) rs201610819 0.00003
NM_018344.6(SLC29A3):c.271G>A (p.Gly91Arg) rs772093728 0.00003
NM_018344.6(SLC29A3):c.400C>T (p.Arg134Cys) rs1430557607 0.00003
NM_018344.6(SLC29A3):c.420G>A (p.Thr140=) rs374748823 0.00003
NM_018344.6(SLC29A3):c.625G>A (p.Gly209Arg) rs779712924 0.00003
NM_018344.6(SLC29A3):c.971C>T (p.Pro324Leu) rs758201217 0.00003
NM_018344.6(SLC29A3):c.104T>G (p.Leu35Arg) rs531482844 0.00002
NM_018344.6(SLC29A3):c.1074T>A (p.Ala358=) rs779240655 0.00002
NM_018344.6(SLC29A3):c.1219G>A (p.Val407Met) rs144517514 0.00002
NM_018344.6(SLC29A3):c.1279G>A (p.Gly427Ser) rs121912583 0.00002
NM_018344.6(SLC29A3):c.1285C>A (p.Leu429Ile) rs745445966 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.257C>T (p.Ser86Phe) rs770658371 0.00002
NM_018344.6(SLC29A3):c.300+7G>A rs768206919 0.00002
NM_018344.6(SLC29A3):c.334A>G (p.Thr112Ala) rs374212391 0.00002
NM_018344.6(SLC29A3):c.401G>A (p.Arg134His) rs761175955 0.00002
NM_018344.6(SLC29A3):c.611-1G>T rs139857136 0.00002
NM_018344.6(SLC29A3):c.639C>T (p.Ala213=) rs151009829 0.00002
NM_018344.6(SLC29A3):c.1006G>A (p.Gly336Ser) rs769377761 0.00001
NM_018344.6(SLC29A3):c.1088G>A (p.Arg363Gln) rs387907066 0.00001
NM_018344.6(SLC29A3):c.10G>A (p.Val4Ile) rs202128882 0.00001
NM_018344.6(SLC29A3):c.111C>T (p.Asp37=) rs773183035 0.00001
NM_018344.6(SLC29A3):c.1157G>A (p.Arg386Gln) rs397515429 0.00001
NM_018344.6(SLC29A3):c.116C>T (p.Pro39Leu) rs368939297 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.1235A>G (p.Asp412Gly) rs771819865 0.00001
NM_018344.6(SLC29A3):c.1243C>G (p.Pro415Ala) rs776729312 0.00001
NM_018344.6(SLC29A3):c.1278C>T (p.Asn426=) rs764543735 0.00001
NM_018344.6(SLC29A3):c.1307A>G (p.Tyr436Cys) rs746754933 0.00001
NM_018344.6(SLC29A3):c.1346C>T (p.Thr449Met) rs267607058 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.148T>C (p.Phe50Leu) rs769621228 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.242A>G (p.Lys81Arg) rs1470448032 0.00001
NM_018344.6(SLC29A3):c.252C>G (p.Asn84Lys) rs749057267 0.00001
NM_018344.6(SLC29A3):c.300+1G>A rs587780463 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.384-17T>A rs1846758379 0.00001
NM_018344.6(SLC29A3):c.395A>G (p.His132Arg) rs777204470 0.00001
NM_018344.6(SLC29A3):c.418A>G (p.Thr140Ala) rs1412934119 0.00001
NM_018344.6(SLC29A3):c.431C>G (p.Ala144Gly) rs751289697 0.00001
NM_018344.6(SLC29A3):c.454C>T (p.Leu152=) rs377174282 0.00001
NM_018344.6(SLC29A3):c.465G>A (p.Val155=) rs746005698 0.00001
NM_018344.6(SLC29A3):c.508G>C (p.Val170Leu) rs767315806 0.00001
NM_018344.6(SLC29A3):c.529G>A (p.Gly177Ser) rs751857525 0.00001
NM_018344.6(SLC29A3):c.530G>A (p.Gly177Asp) rs1013295413 0.00001
NM_018344.6(SLC29A3):c.571G>A (p.Gly191Ser) rs770328093 0.00001
NM_018344.6(SLC29A3):c.587G>A (p.Arg196Lys) rs142951844 0.00001
NM_018344.6(SLC29A3):c.590A>G (p.Asn197Ser) rs367979437 0.00001
NM_018344.6(SLC29A3):c.591C>T (p.Asn197=) rs1369949983 0.00001
NM_018344.6(SLC29A3):c.59C>G (p.Thr20Arg) rs754138983 0.00001
NM_018344.6(SLC29A3):c.607T>C (p.Ser203Pro) rs397514626 0.00001
NM_018344.6(SLC29A3):c.610+1G>A rs1166563034 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.700T>C (p.Phe234Leu) rs147015207 0.00001
NM_018344.6(SLC29A3):c.717C>T (p.Val239=) rs765482832 0.00001
NM_018344.6(SLC29A3):c.723C>T (p.Leu241=) rs763353584 0.00001
NM_018344.6(SLC29A3):c.737G>A (p.Gly246Glu) rs1767630986 0.00001
NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter) rs746408350 0.00001
NM_018344.6(SLC29A3):c.774-13C>T rs763377973 0.00001
NM_018344.6(SLC29A3):c.782T>C (p.Met261Thr) rs963639698 0.00001
NM_018344.6(SLC29A3):c.797C>T (p.Ala266Val) rs142991278 0.00001
NM_018344.6(SLC29A3):c.7G>A (p.Val3Ile) rs774843880 0.00001
NM_018344.6(SLC29A3):c.804T>C (p.His268=) rs896755457 0.00001
NM_018344.6(SLC29A3):c.854C>T (p.Ser285Leu) rs773495153 0.00001
NM_018344.6(SLC29A3):c.872T>C (p.Ile291Thr) rs763608414 0.00001
NM_018344.6(SLC29A3):c.896G>A (p.Arg299His) rs371038814 0.00001
NM_018344.6(SLC29A3):c.89C>T (p.Ala30Val) rs564350775 0.00001
NM_018344.6(SLC29A3):c.902T>A (p.Ile301Asn) rs1307741029 0.00001
NM_018344.6(SLC29A3):c.920G>A (p.Ser307Asn) rs556688985 0.00001
NM_018344.6(SLC29A3):c.981C>T (p.Cys327=) rs144433073 0.00001
NC_000010.10:g.(?_73079047)_(73079087_?)del
NC_000010.10:g.(?_73079047)_(73082831_?)dup
NC_000010.10:g.(?_73079067)_(73082831_?)dup
NC_000010.10:g.(?_73103946)_(73104068_?)del
NC_000010.10:g.(?_73111299)_(73122365_?)del
NC_000010.10:g.(?_73115818)_(73116020_?)del
NC_000010.10:g.(?_73121691)_(73122365_?)del
NM_018344.6(SLC29A3):c.1+13C>T
NM_018344.6(SLC29A3):c.1+14G>C
NM_018344.6(SLC29A3):c.1+1G>C
NM_018344.6(SLC29A3):c.1+2T>G
NM_018344.6(SLC29A3):c.1+8C>T
NM_018344.6(SLC29A3):c.1004A>G (p.Lys335Arg)
NM_018344.6(SLC29A3):c.1005G>A (p.Lys335=)
NM_018344.6(SLC29A3):c.1017A>G (p.Ser339=) rs1847078623
NM_018344.6(SLC29A3):c.101_104dup (p.Leu36fs) rs2131796660
NM_018344.6(SLC29A3):c.1028C>G (p.Thr343Ser) rs1427868949
NM_018344.6(SLC29A3):c.1028C>T (p.Thr343Ile)
NM_018344.6(SLC29A3):c.1041C>T (p.Ile347=)
NM_018344.6(SLC29A3):c.1043C>T (p.Pro348Leu)
NM_018344.6(SLC29A3):c.1045del (p.Leu349fs) rs869025176
NM_018344.6(SLC29A3):c.1061T>C (p.Leu354Pro) rs1564543328
NM_018344.6(SLC29A3):c.1068C>T (p.Asn356=) rs2131851729
NM_018344.6(SLC29A3):c.1077_1084del (p.Asp359fs)
NM_018344.6(SLC29A3):c.1078C>T (p.Leu360=) rs2131851749
NM_018344.6(SLC29A3):c.1118G>A (p.Gly373Glu)
NM_018344.6(SLC29A3):c.111C>A (p.Asp37Glu) rs773183035
NM_018344.6(SLC29A3):c.1121C>T (p.Pro374Leu) rs1847082074
NM_018344.6(SLC29A3):c.1122C>T (p.Pro374=) rs1391816956
NM_018344.6(SLC29A3):c.1125T>C (p.Asn375=)
NM_018344.6(SLC29A3):c.1132G>A (p.Ala378Thr)
NM_018344.6(SLC29A3):c.1135C>G (p.Leu379Val) rs762572378
NM_018344.6(SLC29A3):c.1135C>T (p.Leu379Phe) rs762572378
NM_018344.6(SLC29A3):c.1142G>A (p.Gly381Glu)
NM_018344.6(SLC29A3):c.1142G>C (p.Gly381Ala) rs1835368591
NM_018344.6(SLC29A3):c.1147G>A (p.Val383Met) rs200001297
NM_018344.6(SLC29A3):c.1147G>C (p.Val383Leu) rs200001297
NM_018344.6(SLC29A3):c.1172C>A (p.Pro391His)
NM_018344.6(SLC29A3):c.1173C>G (p.Pro391=)
NM_018344.6(SLC29A3):c.1174C>G (p.Leu392Val) rs748622163
NM_018344.6(SLC29A3):c.1175T>C (p.Leu392Pro)
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.1209C>T (p.His403=)
NM_018344.6(SLC29A3):c.122del (p.Pro41fs) rs749946303
NM_018344.6(SLC29A3):c.1230G>A (p.Gln410=)
NM_018344.6(SLC29A3):c.1234G>A (p.Asp412Asn)
NM_018344.6(SLC29A3):c.1237G>A (p.Val413Met)
NM_018344.6(SLC29A3):c.1242C>T (p.Tyr414=)
NM_018344.6(SLC29A3):c.1245C>T (p.Pro415=)
NM_018344.6(SLC29A3):c.1246G>A (p.Ala416Thr)
NM_018344.6(SLC29A3):c.1246G>T (p.Ala416Ser)
NM_018344.6(SLC29A3):c.1269G>A (p.Gly423=) rs2131852171
NM_018344.6(SLC29A3):c.1283A>G (p.Tyr428Cys)
NM_018344.6(SLC29A3):c.1287C>T (p.Leu429=)
NM_018344.6(SLC29A3):c.128T>C (p.Leu43Pro)
NM_018344.6(SLC29A3):c.1292C>T (p.Thr431Ile) rs758061099
NM_018344.6(SLC29A3):c.1294del (p.Leu432fs)
NM_018344.6(SLC29A3):c.1295del (p.Leu432fs)
NM_018344.6(SLC29A3):c.1323G>A (p.Val441=)
NM_018344.6(SLC29A3):c.1326C>T (p.Pro442=) rs759673817
NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter) rs267607056
NM_018344.6(SLC29A3):c.1330_1331delinsAT (p.Glu444Met)
NM_018344.6(SLC29A3):c.1342G>A (p.Ala448Thr)
NM_018344.6(SLC29A3):c.1344C>G (p.Ala448=)
NM_018344.6(SLC29A3):c.1350_1354del (p.Val451fs)
NM_018344.6(SLC29A3):c.1359G>A (p.Met453Ile)
NM_018344.6(SLC29A3):c.135G>T (p.Arg45Ser)
NM_018344.6(SLC29A3):c.1368T>G (p.Tyr456Ter) rs2131852395
NM_018344.6(SLC29A3):c.1369G>A (p.Val457Met)
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.138C>G (p.Pro46=)
NM_018344.6(SLC29A3):c.1392C>T (p.Gly464=)
NM_018344.6(SLC29A3):c.1397C>G (p.Ala466Gly)
NM_018344.6(SLC29A3):c.139G>T (p.Glu47Ter) rs377762611
NM_018344.6(SLC29A3):c.1406C>G (p.Thr469Ser)
NM_018344.6(SLC29A3):c.1406C>T (p.Thr469Ile) rs748043094
NM_018344.6(SLC29A3):c.1413G>A (p.Leu471=)
NM_018344.6(SLC29A3):c.1419C>T (p.His473=) rs372551556
NM_018344.6(SLC29A3):c.1424T>C (p.Ile475Thr) rs1564543743
NM_018344.6(SLC29A3):c.1427A>G (p.Ter476Trp) rs2131852506
NM_018344.6(SLC29A3):c.145C>T (p.Arg49Cys) rs199619817
NM_018344.6(SLC29A3):c.146G>A (p.Arg49His)
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.163A>C (p.Ile55Leu) rs774173242
NM_018344.6(SLC29A3):c.163A>G (p.Ile55Val)
NM_018344.6(SLC29A3):c.177C>T (p.Ser59=) rs760763432
NM_018344.6(SLC29A3):c.182G>A (p.Gly61Asp) rs2131796885
NM_018344.6(SLC29A3):c.185T>C (p.Ile62Thr)
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.2-9C>G
NM_018344.6(SLC29A3):c.201A>G (p.Pro67=)
NM_018344.6(SLC29A3):c.207CTT[1] (p.Phe71del) rs766108072
NM_018344.6(SLC29A3):c.21C>A (p.Asp7Glu) rs746298917
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.225G>C (p.Lys75Asn)
NM_018344.6(SLC29A3):c.230A>G (p.Tyr77Cys)
NM_018344.6(SLC29A3):c.231C>T (p.Tyr77=)
NM_018344.6(SLC29A3):c.260G>A (p.Ser87Asn)
NM_018344.6(SLC29A3):c.269_275del (p.Thr90fs) rs1223982382
NM_018344.6(SLC29A3):c.273G>C (p.Gly91=)
NM_018344.6(SLC29A3):c.273_277dup (p.Asp93fs)
NM_018344.6(SLC29A3):c.290C>T (p.Ser97Leu) rs1055285740
NM_018344.6(SLC29A3):c.292G>A (p.Asp98Asn) rs2131797127
NM_018344.6(SLC29A3):c.297C>G (p.Ile99Met)
NM_018344.6(SLC29A3):c.300+11G>A
NM_018344.6(SLC29A3):c.300+14T>A
NM_018344.6(SLC29A3):c.300+2T>C rs2131797156
NM_018344.6(SLC29A3):c.300+5G>A rs1845890496
NM_018344.6(SLC29A3):c.300G>C (p.Leu100=)
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.301-2A>G
NM_018344.6(SLC29A3):c.301-6T>C rs571102657
NM_018344.6(SLC29A3):c.303_320dup (p.Tyr102_Leu107dup) rs1846497179
NM_018344.6(SLC29A3):c.311A>C (p.Glu104Ala)
NM_018344.6(SLC29A3):c.313A>C (p.Ser105Arg) rs2131827630
NM_018344.6(SLC29A3):c.319C>T (p.Leu107Phe) rs1046929974
NM_018344.6(SLC29A3):c.31C>G (p.His11Asp) rs2131796486
NM_018344.6(SLC29A3):c.31C>T (p.His11Tyr)
NM_018344.6(SLC29A3):c.330C>G (p.Ala110=)
NM_018344.6(SLC29A3):c.330C>T (p.Ala110=)
NM_018344.6(SLC29A3):c.336C>T (p.Thr112=)
NM_018344.6(SLC29A3):c.339G>A (p.Val113=) rs1476419275
NM_018344.6(SLC29A3):c.342C>T (p.Pro114=)
NM_018344.6(SLC29A3):c.344C>G (p.Ser115Cys)
NM_018344.6(SLC29A3):c.346A>G (p.Met116Val) rs749453197
NM_018344.6(SLC29A3):c.358G>T (p.Val120Leu)
NM_018344.6(SLC29A3):c.362C>T (p.Ala121Val)
NM_018344.6(SLC29A3):c.366C>A (p.Asn122Lys) rs1327430777
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.374T>A (p.Leu125His) rs1846502655
NM_018344.6(SLC29A3):c.379A>G (p.Asn127Asp) rs761243929
NM_018344.6(SLC29A3):c.381C>T (p.Asn127=)
NM_018344.6(SLC29A3):c.382_383del (p.Arg128fs)
NM_018344.6(SLC29A3):c.383+11C>G
NM_018344.6(SLC29A3):c.383+5G>A rs1846503811
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.396C>T (p.His132=)
NM_018344.6(SLC29A3):c.397A>G (p.Ile133Val) rs2131838911
NM_018344.6(SLC29A3):c.403G>C (p.Val135Leu)
NM_018344.6(SLC29A3):c.40A>G (p.Asn14Asp) rs541461094
NM_018344.6(SLC29A3):c.414A>G (p.Ser138=) rs769835923
NM_018344.6(SLC29A3):c.422T>G (p.Val141Gly)
NM_018344.6(SLC29A3):c.424A>G (p.Ile142Val) rs1589237723
NM_018344.6(SLC29A3):c.432C>T (p.Ala144=)
NM_018344.6(SLC29A3):c.443T>G (p.Val148Gly)
NM_018344.6(SLC29A3):c.443del (p.Val148fs) rs2131839011
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.479G>A (p.Trp160Ter) rs776960135
NM_018344.6(SLC29A3):c.485G>A (p.Arg162His)
NM_018344.6(SLC29A3):c.498G>A (p.Ala166=)
NM_018344.6(SLC29A3):c.498G>C (p.Ala166=) rs150879861
NM_018344.6(SLC29A3):c.510C>G (p.Val170=)
NM_018344.6(SLC29A3):c.510C>T (p.Val170=)
NM_018344.6(SLC29A3):c.516G>A (p.Met172Ile) rs1554817114
NM_018344.6(SLC29A3):c.517G>A (p.Val173Met) rs752487563
NM_018344.6(SLC29A3):c.517G>T (p.Val173Leu)
NM_018344.6(SLC29A3):c.517_519del (p.Val173del)
NM_018344.6(SLC29A3):c.51_52inv (p.Arg18Gly)
NM_018344.6(SLC29A3):c.525C>T (p.Leu175=)
NM_018344.6(SLC29A3):c.526A>C (p.Ser176Arg)
NM_018344.6(SLC29A3):c.528C>T (p.Ser176=)
NM_018344.6(SLC29A3):c.531T>C (p.Gly177=)
NM_018344.6(SLC29A3):c.549C>T (p.Ser183=) rs2131839283
NM_018344.6(SLC29A3):c.550_551delinsCC (p.Ser184Pro) rs2131839287
NM_018344.6(SLC29A3):c.552C>T (p.Ser184=)
NM_018344.6(SLC29A3):c.564C>T (p.Gly188=) rs2131839320
NM_018344.6(SLC29A3):c.57C>G (p.Thr19=)
NM_018344.6(SLC29A3):c.583A>G (p.Met195Val) rs748749123
NM_018344.6(SLC29A3):c.583A>T (p.Met195Leu)
NM_018344.6(SLC29A3):c.586A>C (p.Arg196=)
NM_018344.6(SLC29A3):c.586A>G (p.Arg196Gly) rs771684605
NM_018344.6(SLC29A3):c.59_60dup (p.Ser21fs)
NM_018344.6(SLC29A3):c.5C>T (p.Ala2Val) rs1845876868
NM_018344.6(SLC29A3):c.604A>G (p.Ile202Val)
NM_018344.6(SLC29A3):c.605T>C (p.Ile202Thr) rs1846771482
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.610+18G>C
NM_018344.6(SLC29A3):c.610+6A>G rs1404531907
NM_018344.6(SLC29A3):c.611-11G>A
NM_018344.6(SLC29A3):c.611-14T>C
NM_018344.6(SLC29A3):c.611-19T>G
NM_018344.6(SLC29A3):c.611-8C>G rs758975664
NM_018344.6(SLC29A3):c.617C>T (p.Ala206Val) rs779297305
NM_018344.6(SLC29A3):c.619A>G (p.Met207Val)
NM_018344.6(SLC29A3):c.621G>C (p.Met207Ile) rs2131844237
NM_018344.6(SLC29A3):c.626G>A (p.Gly209Glu)
NM_018344.6(SLC29A3):c.650T>C (p.Leu217Ser) rs1846900381
NM_018344.6(SLC29A3):c.659T>G (p.Leu220Trp)
NM_018344.6(SLC29A3):c.676G>T (p.Val226Leu) rs750920341
NM_018344.6(SLC29A3):c.678G>A (p.Val226=)
NM_018344.6(SLC29A3):c.679A>G (p.Arg227Gly)
NM_018344.6(SLC29A3):c.67_70del (p.Leu24fs)
NM_018344.6(SLC29A3):c.684C>G (p.Asn228Lys)
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.713_715del (p.Thr238_Val239delinsIle) rs1846903353
NM_018344.6(SLC29A3):c.714T>G (p.Thr238=)
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)
NM_018344.6(SLC29A3):c.719T>G (p.Phe240Cys) rs1589240617
NM_018344.6(SLC29A3):c.724G>A (p.Val242Met)
NM_018344.6(SLC29A3):c.728T>C (p.Leu243Pro)
NM_018344.6(SLC29A3):c.739C>T (p.Leu247Phe)
NM_018344.6(SLC29A3):c.743A>G (p.Tyr248Cys) rs1183935684
NM_018344.6(SLC29A3):c.749T>C (p.Leu250Pro)
NM_018344.6(SLC29A3):c.751C>T (p.Leu251=) rs1249645317
NM_018344.6(SLC29A3):c.753G>C (p.Leu251=)
NM_018344.6(SLC29A3):c.770C>G (p.Ala257Gly) rs148164425
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.774-20G>T
NM_018344.6(SLC29A3):c.774G>C (p.Arg258Ser)
NM_018344.6(SLC29A3):c.777C>A (p.Tyr259Ter)
NM_018344.6(SLC29A3):c.799G>A (p.Ala267Thr) rs1847066506
NM_018344.6(SLC29A3):c.800C>A (p.Ala267Asp) rs757102651
NM_018344.6(SLC29A3):c.802C>T (p.His268Tyr)
NM_018344.6(SLC29A3):c.80A>T (p.Asp27Val) rs1002400369
NM_018344.6(SLC29A3):c.815G>A (p.Gly272Asp)
NM_018344.6(SLC29A3):c.821A>G (p.Glu274Gly) rs1847067185
NM_018344.6(SLC29A3):c.823G>A (p.Glu275Lys)
NM_018344.6(SLC29A3):c.837C>T (p.Asp279=)
NM_018344.6(SLC29A3):c.839C>G (p.Ser280Cys)
NM_018344.6(SLC29A3):c.859G>A (p.Ala287Thr)
NM_018344.6(SLC29A3):c.874G>C (p.Asp292His) rs1847070217
NM_018344.6(SLC29A3):c.889C>T (p.Pro297Ser) rs150719927
NM_018344.6(SLC29A3):c.890C>T (p.Pro297Leu) rs779969612
NM_018344.6(SLC29A3):c.894C>G (p.Leu298=) rs748117635
NM_018344.6(SLC29A3):c.894C>T (p.Leu298=)
NM_018344.6(SLC29A3):c.897C>T (p.Arg299=)
NM_018344.6(SLC29A3):c.898C>T (p.Pro300Ser)
NM_018344.6(SLC29A3):c.903C>T (p.Ile301=) rs2131851352
NM_018344.6(SLC29A3):c.908AGA[1] (p.Lys304del)
NM_018344.6(SLC29A3):c.914_915delinsTC (p.Thr305Ile) rs1589244189
NM_018344.6(SLC29A3):c.915G>A (p.Thr305=)
NM_018344.6(SLC29A3):c.919dup (p.Ser307fs)
NM_018344.6(SLC29A3):c.921C>T (p.Ser307=)
NM_018344.6(SLC29A3):c.925G>C (p.Gly309Arg)
NM_018344.6(SLC29A3):c.926G>T (p.Gly309Val) rs2131851398
NM_018344.6(SLC29A3):c.927C>T (p.Gly309=)
NM_018344.6(SLC29A3):c.939C>G (p.Thr313=) rs367679598
NM_018344.6(SLC29A3):c.939C>T (p.Thr313=)
NM_018344.6(SLC29A3):c.942C>T (p.Tyr314=)
NM_018344.6(SLC29A3):c.946TTC[1] (p.Phe317del)
NM_018344.6(SLC29A3):c.963del (p.Ile322fs) rs2131851477
NM_018344.6(SLC29A3):c.964A>T (p.Ile322Phe) rs1260766977
NM_018344.6(SLC29A3):c.967T>C (p.Tyr323His)
NM_018344.6(SLC29A3):c.970C>T (p.Pro324Ser) rs2131851495
NM_018344.6(SLC29A3):c.972C>A (p.Pro324=)
NM_018344.6(SLC29A3):c.984del (p.Asn329fs) rs1415833135
NM_018344.6(SLC29A3):c.986A>G (p.Asn329Ser) rs1554818046
NM_018344.6(SLC29A3):c.988A>G (p.Ile330Val)
NM_018344.6(SLC29A3):c.990C>A (p.Ile330=)
NM_018344.6(SLC29A3):c.990C>T (p.Ile330=)

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