ClinVar Miner

List of variants in gene SEMA3E studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
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Total variants: 41
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HGVS dbSNP
NM_012431.3(SEMA3E):c.1043G>A (p.Ser348Asn)
NM_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln)
NM_012431.3(SEMA3E):c.1081G>A (p.Glu361Lys)
NM_012431.3(SEMA3E):c.1084G>A (p.Gly362Arg)
NM_012431.3(SEMA3E):c.116-10T>A rs1562804630
NM_012431.3(SEMA3E):c.1216A>G (p.Arg406Gly)
NM_012431.3(SEMA3E):c.1303C>G (p.Gln435Glu) rs752774852
NM_012431.3(SEMA3E):c.1429G>A (p.Val477Ile)
NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp)
NM_012431.3(SEMA3E):c.1506G>T (p.Gln502His) rs1170846873
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)
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513
NM_012431.3(SEMA3E):c.1690C>T (p.Arg564Ter)
NM_012431.3(SEMA3E):c.1722A>T (p.Gly574=) rs61729608
NM_012431.3(SEMA3E):c.1855C>T (p.Arg619Cys) rs143631464
NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val)
NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe)
NM_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser) rs144370841
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)
NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val) rs61729610
NM_012431.3(SEMA3E):c.214G>T (p.Val72Leu)
NM_012431.3(SEMA3E):c.2152G>A (p.Gly718Ser) rs148649507
NM_012431.3(SEMA3E):c.2188G>T (p.Glu730Ter)
NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=) rs2371545
NM_012431.3(SEMA3E):c.2320G>T (p.Asp774Tyr) rs767621375
NM_012431.3(SEMA3E):c.322A>C (p.Lys108Gln)
NM_012431.3(SEMA3E):c.359G>A (p.Arg120Gln)
NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser)
NM_012431.3(SEMA3E):c.520C>T (p.Pro174Ser) rs1441322114
NM_012431.3(SEMA3E):c.713A>G (p.Asp238Gly) rs1554320716
NM_012431.3(SEMA3E):c.716G>C (p.Arg239Thr)
NM_012431.3(SEMA3E):c.718G>T (p.Asp240Tyr)
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.995C>G (p.Thr332Ser) rs1554320452
Single allele

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