ClinVar Miner

List of variants in gene SNX27 reported as uncertain significance for neurodevelopmental disorder

Included ClinVar conditions (780):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_001330723.2(SNX27):c.1427G>T (p.Arg476Leu) rs200106732 0.00020
NM_001330723.2(SNX27):c.1438G>C (p.Asp480His) rs145045028 0.00013
NM_001330723.2(SNX27):c.1124T>G (p.Leu375Arg) rs749329909 0.00007
NM_001330723.2(SNX27):c.422A>T (p.Asp141Val) rs1300183081 0.00007
NM_001330723.2(SNX27):c.938C>T (p.Thr313Met) rs140922236 0.00007
NM_001330723.2(SNX27):c.1274A>G (p.Asn425Ser) rs768030688 0.00006
NM_001330723.2(SNX27):c.914C>T (p.Ala305Val) rs151014791 0.00006
NM_001330723.2(SNX27):c.1118A>G (p.Asn373Ser) rs149636067 0.00004
NM_001330723.2(SNX27):c.1346C>T (p.Thr449Met) rs754928412 0.00004
NM_001330723.2(SNX27):c.1571G>A (p.Arg524Lys) rs751866300 0.00004
NM_001330723.2(SNX27):c.1578+2_1578+3dup rs779581923 0.00004
NM_001330723.2(SNX27):c.676T>A (p.Ser226Thr) rs748735835 0.00004
NM_001330723.2(SNX27):c.823G>A (p.Val275Ile) rs145927992 0.00004
NM_001330723.2(SNX27):c.1154T>C (p.Val385Ala) rs534450090 0.00003
NM_001330723.2(SNX27):c.1240-3T>A rs1558078080 0.00003
NM_001330723.2(SNX27):c.1324G>A (p.Val442Ile) rs149937418 0.00003
NM_001330723.2(SNX27):c.1475G>A (p.Arg492Gln) rs1397864351 0.00003
NM_001330723.2(SNX27):c.898G>A (p.Val300Ile) rs749870596 0.00003
NM_001330723.2(SNX27):c.1025A>G (p.Tyr342Cys) rs954363272 0.00002
NM_001330723.2(SNX27):c.1147C>G (p.Gln383Glu) rs758891209 0.00002
NM_001330723.2(SNX27):c.1247A>G (p.Asn416Ser) rs372894841 0.00002
NM_001330723.2(SNX27):c.1256G>A (p.Arg419Lys) rs1314203228 0.00002
NM_001330723.2(SNX27):c.1523A>G (p.Asn508Ser) rs753870444 0.00002
NM_001330723.2(SNX27):c.260G>C (p.Gly87Ala) rs1384033530 0.00002
NM_001330723.2(SNX27):c.913G>A (p.Ala305Thr) rs778236794 0.00002
NM_001330723.2(SNX27):c.1024T>G (p.Tyr342Asp) rs1177213865 0.00001
NM_001330723.2(SNX27):c.1046C>A (p.Ala349Asp) rs771457853 0.00001
NM_001330723.2(SNX27):c.1150-3T>C rs776392332 0.00001
NM_001330723.2(SNX27):c.1181A>C (p.Lys394Thr) rs1558073082 0.00001
NM_001330723.2(SNX27):c.1235T>A (p.Val412Asp) rs778000318 0.00001
NM_001330723.2(SNX27):c.1258A>T (p.Thr420Ser) rs1399483139 0.00001
NM_001330723.2(SNX27):c.1283T>A (p.Ile428Asn) rs374866696 0.00001
NM_001330723.2(SNX27):c.1348C>T (p.His450Tyr) rs747607305 0.00001
NM_001330723.2(SNX27):c.1447G>A (p.Gly483Arg) rs543145513 0.00001
NM_001330723.2(SNX27):c.1465G>A (p.Glu489Lys) rs1400115897 0.00001
NM_001330723.2(SNX27):c.211A>G (p.Asn71Asp) rs1225201475 0.00001
NM_001330723.2(SNX27):c.259G>C (p.Gly87Arg) rs750944911 0.00001
NM_001330723.2(SNX27):c.263G>C (p.Gly88Ala) rs1231812552 0.00001
NM_001330723.2(SNX27):c.271G>T (p.Asp91Tyr) rs747022780 0.00001
NM_001330723.2(SNX27):c.388T>A (p.Leu130Met) rs767929616 0.00001
NM_001330723.2(SNX27):c.406C>T (p.Pro136Ser) rs749569161 0.00001
NM_001330723.2(SNX27):c.527A>G (p.Asn176Ser) rs377039099 0.00001
NM_001330723.2(SNX27):c.731A>G (p.Glu244Gly) rs745573692 0.00001
NM_001330723.2(SNX27):c.774G>A (p.Met258Ile) rs778326282 0.00001
NM_001330723.2(SNX27):c.796G>A (p.Asp266Asn) rs779687444 0.00001
NM_001330723.2(SNX27):c.848A>G (p.Asp283Gly) rs776237861 0.00001
NM_001330723.2(SNX27):c.857C>T (p.Thr286Met) rs540042464 0.00001
NM_001330723.2(SNX27):c.862A>G (p.Thr288Ala) rs1198073102 0.00001
NM_001330723.2(SNX27):c.935G>A (p.Ser312Asn) rs745875154 0.00001
NM_001330723.2(SNX27):c.1048G>A (p.Val350Met) rs947126545
NM_001330723.2(SNX27):c.1067C>A (p.Thr356Asn) rs1670315660
NM_001330723.2(SNX27):c.1075A>G (p.Lys359Glu) rs2102695473
NM_001330723.2(SNX27):c.1096G>A (p.Glu366Lys)
NM_001330723.2(SNX27):c.1135T>C (p.Tyr379His)
NM_001330723.2(SNX27):c.1145A>G (p.His382Arg)
NM_001330723.2(SNX27):c.1145A>T (p.His382Leu)
NM_001330723.2(SNX27):c.1214T>C (p.Leu405Pro) rs1671055950
NM_001330723.2(SNX27):c.1216T>C (p.Tyr406His)
NM_001330723.2(SNX27):c.1237A>G (p.Met413Val) rs144336311
NM_001330723.2(SNX27):c.1238T>C (p.Met413Thr) rs2102724392
NM_001330723.2(SNX27):c.1240-3T>C rs1558078080
NM_001330723.2(SNX27):c.1240-3_1240-2insTTA rs71093207
NM_001330723.2(SNX27):c.1246A>C (p.Asn416His) rs1388451146
NM_001330723.2(SNX27):c.1246A>G (p.Asn416Asp) rs1388451146
NM_001330723.2(SNX27):c.1278A>T (p.Glu426Asp) rs1671499964
NM_001330723.2(SNX27):c.1282A>G (p.Ile428Val) rs1228574763
NM_001330723.2(SNX27):c.1289C>T (p.Pro430Leu) rs1671500919
NM_001330723.2(SNX27):c.1291C>T (p.His431Tyr) rs1487640435
NM_001330723.2(SNX27):c.1310G>C (p.Arg437Thr) rs1558078260
NM_001330723.2(SNX27):c.1313G>A (p.Arg438Lys)
NM_001330723.2(SNX27):c.1361A>G (p.His454Arg) rs2102743022
NM_001330723.2(SNX27):c.1457T>C (p.Phe486Ser) rs2102743959
NM_001330723.2(SNX27):c.1486A>C (p.Lys496Gln)
NM_001330723.2(SNX27):c.1493G>A (p.Arg498Gln) rs1558078709
NM_001330723.2(SNX27):c.1495T>C (p.Trp499Arg) rs1245623181
NM_001330723.2(SNX27):c.1495T>G (p.Trp499Gly) rs1245623181
NM_001330723.2(SNX27):c.1517A>G (p.Tyr506Cys) rs1553266278
NM_001330723.2(SNX27):c.1558G>A (p.Glu520Lys)
NM_001330723.2(SNX27):c.1574_1575del (p.Lys525fs)
NM_001330723.2(SNX27):c.1578+119_1578+122del rs748138783
NM_001330723.2(SNX27):c.211A>C (p.Asn71His) rs1225201475
NM_001330723.2(SNX27):c.213C>G (p.Asn71Lys) rs1341644365
NM_001330723.2(SNX27):c.217G>A (p.Glu73Lys)
NM_001330723.2(SNX27):c.238C>G (p.His80Asp) rs1571741601
NM_001330723.2(SNX27):c.239A>T (p.His80Leu) rs753540643
NM_001330723.2(SNX27):c.247_248delinsTT (p.Ala83Phe) rs2102579047
NM_001330723.2(SNX27):c.259G>A (p.Gly87Arg) rs750944911
NM_001330723.2(SNX27):c.259G>T (p.Gly87Trp) rs750944911
NM_001330723.2(SNX27):c.275G>T (p.Arg92Leu) rs768798077
NM_001330723.2(SNX27):c.292G>A (p.Gly98Arg) rs1667222276
NM_001330723.2(SNX27):c.298C>A (p.Arg100Ser) rs2102579246
NM_001330723.2(SNX27):c.317A>C (p.His106Pro) rs1668592005
NM_001330723.2(SNX27):c.323A>G (p.Asn108Ser) rs1004258589
NM_001330723.2(SNX27):c.437G>C (p.Ser146Thr)
NM_001330723.2(SNX27):c.446C>T (p.Ser149Leu)
NM_001330723.2(SNX27):c.450G>T (p.Leu150Phe) rs2102633311
NM_001330723.2(SNX27):c.455A>G (p.Gln152Arg) rs546091137
NM_001330723.2(SNX27):c.478A>G (p.Lys160Glu)
NM_001330723.2(SNX27):c.484G>A (p.Ala162Thr) rs2102633390
NM_001330723.2(SNX27):c.493A>C (p.Ile165Leu) rs1668605133
NM_001330723.2(SNX27):c.543+6T>C rs1571793465
NM_001330723.2(SNX27):c.548A>G (p.Tyr183Cys)
NM_001330723.2(SNX27):c.563C>G (p.Ala188Gly) rs2102676713
NM_001330723.2(SNX27):c.575T>A (p.Leu192Gln) rs1208840156
NM_001330723.2(SNX27):c.595G>C (p.Glu199Gln) rs1176950317
NM_001330723.2(SNX27):c.601G>A (p.Ala201Thr)
NM_001330723.2(SNX27):c.616A>G (p.Asn206Asp) rs2102676815
NM_001330723.2(SNX27):c.632T>A (p.Phe211Tyr) rs1669791900
NM_001330723.2(SNX27):c.653G>A (p.Arg218Gln) rs2102676934
NM_001330723.2(SNX27):c.656T>C (p.Leu219Pro) rs1669792785
NM_001330723.2(SNX27):c.701C>T (p.Ala234Val)
NM_001330723.2(SNX27):c.707G>A (p.Arg236His) rs1669794702
NM_001330723.2(SNX27):c.721G>A (p.Glu241Lys)
NM_001330723.2(SNX27):c.737-15_737-10del
NM_001330723.2(SNX27):c.752T>G (p.Val251Gly) rs753881769
NM_001330723.2(SNX27):c.755T>C (p.Ile252Thr) rs1669930051
NM_001330723.2(SNX27):c.775C>A (p.Gln259Lys)
NM_001330723.2(SNX27):c.820G>A (p.Asp274Asn) rs749266618
NM_001330723.2(SNX27):c.828G>C (p.Glu276Asp) rs1669991535
NM_001330723.2(SNX27):c.838G>A (p.Ala280Thr)
NM_001330723.2(SNX27):c.844_846dup (p.Pro282_Asp283insPro)
NM_001330723.2(SNX27):c.857C>A (p.Thr286Lys) rs540042464
NM_001330723.2(SNX27):c.882C>A (p.Asn294Lys)
NM_001330723.2(SNX27):c.883A>G (p.Ser295Gly) rs754578785
NM_001330723.2(SNX27):c.908C>G (p.Ala303Gly)
NM_001330723.2(SNX27):c.908C>T (p.Ala303Val) rs751034029
NM_001330723.2(SNX27):c.913G>T (p.Ala305Ser) rs778236794
NM_001330723.2(SNX27):c.921G>C (p.Lys307Asn) rs1670171559
NM_001330723.2(SNX27):c.980C>T (p.Ser327Phe) rs1571844623
NM_001330723.2(SNX27):c.986-3T>C
NM_001330723.2(SNX27):c.988C>T (p.Arg330Cys)
NM_001330723.2(SNX27):c.997G>C (p.Ala333Pro)

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