ClinVar Miner

List of variants in gene SEMA3E studied for CHARGE association

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Total variants: 98
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HGVS dbSNP
NC_000007.14:g.(?_83367566)_(83648562_?)del
NM_012431.3(SEMA3E):c.1017T>A (p.His339Gln) rs746431820
NM_012431.3(SEMA3E):c.1043G>A (p.Ser348Asn) rs1293541067
NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp)
NM_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln) rs748722795
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp)
NM_012431.3(SEMA3E):c.1076A>G (p.His359Arg)
NM_012431.3(SEMA3E):c.1076A>T (p.His359Leu)
NM_012431.3(SEMA3E):c.1081G>A (p.Glu361Lys) rs754754690
NM_012431.3(SEMA3E):c.1084G>A (p.Gly362Arg) rs751565672
NM_012431.3(SEMA3E):c.116-10T>A rs1562804630
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe)
NM_012431.3(SEMA3E):c.1198G>T (p.Asp400Tyr)
NM_012431.3(SEMA3E):c.1216A>G (p.Arg406Gly) rs1584221582
NM_012431.3(SEMA3E):c.1243A>T (p.Ile415Leu)
NM_012431.3(SEMA3E):c.1272G>A (p.Leu424=) rs2722974
NM_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn)
NM_012431.3(SEMA3E):c.1303C>G (p.Gln435Glu) rs752774852
NM_012431.3(SEMA3E):c.1309G>A (p.Ala437Thr)
NM_012431.3(SEMA3E):c.1341A>G (p.Gln447=)
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=) rs148072082
NM_012431.3(SEMA3E):c.1348G>A (p.Val450Ile) rs190791287
NM_012431.3(SEMA3E):c.1411A>G (p.Met471Val)
NM_012431.3(SEMA3E):c.1429G>A (p.Val477Ile) rs1327334624
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) rs757610572
NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp) rs111300014
NM_012431.3(SEMA3E):c.149A>G (p.His50Arg)
NM_012431.3(SEMA3E):c.1500G>A (p.Arg500=)
NM_012431.3(SEMA3E):c.1500G>T (p.Arg500=)
NM_012431.3(SEMA3E):c.1506G>T (p.Gln502His) rs1170846873
NM_012431.3(SEMA3E):c.154C>A (p.Pro52Thr)
NM_012431.3(SEMA3E):c.1566T>C (p.Tyr522=) rs61636768
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln) rs769248913
NM_012431.3(SEMA3E):c.167T>C (p.Leu56Pro) rs375067711
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513
NM_012431.3(SEMA3E):c.1690C>T (p.Arg564Ter) rs1420638220
NM_012431.3(SEMA3E):c.1722A>T (p.Gly574=) rs61729608
NM_012431.3(SEMA3E):c.1733T>C (p.Val578Ala)
NM_012431.3(SEMA3E):c.1753A>G (p.Thr585Ala)
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe) rs560983031
NM_012431.3(SEMA3E):c.1855C>T (p.Arg619Cys) rs143631464
NM_012431.3(SEMA3E):c.186G>T (p.Leu62=) rs148264760
NM_012431.3(SEMA3E):c.1876-4G>T rs1321372061
NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val) rs771976054
NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe) rs1246755098
NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=) rs755163849
NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His)
NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met) rs375536813
NM_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser) rs144370841
NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn)
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) rs142204796
NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu) rs121918341
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn) rs768818178
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys)
NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val) rs61729610
NM_012431.3(SEMA3E):c.214G>T (p.Val72Leu) rs371960755
NM_012431.3(SEMA3E):c.2152G>A (p.Gly718Ser) rs148649507
NM_012431.3(SEMA3E):c.2188G>T (p.Glu730Ter) rs752107396
NM_012431.3(SEMA3E):c.2208T>G (p.Asp736Glu)
NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=) rs2371545
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=) rs765040215
NM_012431.3(SEMA3E):c.2283C>T (p.Ser761=) rs80079143
NM_012431.3(SEMA3E):c.2320G>T (p.Asp774Tyr) rs767621375
NM_012431.3(SEMA3E):c.264C>T (p.Asp88=) rs142305186
NM_012431.3(SEMA3E):c.265G>A (p.Gly89Ser)
NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys)
NM_012431.3(SEMA3E):c.321G>A (p.Met107Ile)
NM_012431.3(SEMA3E):c.322A>C (p.Lys108Gln) rs201465097
NM_012431.3(SEMA3E):c.337-9C>T rs1352755933
NM_012431.3(SEMA3E):c.359G>A (p.Arg120Gln) rs781381659
NM_012431.3(SEMA3E):c.371A>G (p.His124Arg)
NM_012431.3(SEMA3E):c.396C>G (p.Thr132=) rs1584267738
NM_012431.3(SEMA3E):c.446A>G (p.Tyr149Cys)
NM_012431.3(SEMA3E):c.447T>A (p.Tyr149Ter)
NM_012431.3(SEMA3E):c.475G>C (p.Glu159Gln)
NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser) rs145249878
NM_012431.3(SEMA3E):c.520C>T (p.Pro174Ser) rs1441322114
NM_012431.3(SEMA3E):c.550+6T>A
NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly)
NM_012431.3(SEMA3E):c.603G>T (p.Ala201=) rs2722985
NM_012431.3(SEMA3E):c.615C>T (p.Ser205=)
NM_012431.3(SEMA3E):c.623G>C (p.Arg208Pro) rs61729612
NM_012431.3(SEMA3E):c.635T>C (p.Ile212Thr)
NM_012431.3(SEMA3E):c.671-10G>A rs372840645
NM_012431.3(SEMA3E):c.713A>G (p.Asp238Gly) rs1554320716
NM_012431.3(SEMA3E):c.716G>C (p.Arg239Thr) rs1295531534
NM_012431.3(SEMA3E):c.718G>T (p.Asp240Tyr) rs777910966
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) rs143878781
NM_012431.3(SEMA3E):c.796G>A (p.Val266Ile)
NM_012431.3(SEMA3E):c.869C>T (p.Ala290Val)
NM_012431.3(SEMA3E):c.870G>A (p.Ala290=) rs756513699
NM_012431.3(SEMA3E):c.900T>C (p.Asn300=) rs28505908
NM_012431.3(SEMA3E):c.949A>T (p.Thr317Ser) rs752718717
NM_012431.3(SEMA3E):c.951C>G (p.Thr317=) rs201663991
NM_012431.3(SEMA3E):c.955G>A (p.Asp319Asn)
NM_012431.3(SEMA3E):c.995C>G (p.Thr332Ser) rs1554320452
NM_012431.3(SEMA3E):c.999-3C>T
NM_012431.3(SEMA3E):c.999-9A>G rs776954864

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