ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 64

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_015178.3(RHOBTB2):c.296+16A>G rs2430811 0.85861
NM_015178.3(RHOBTB2):c.864T>C (p.Ser288=) rs2466178 0.85310
NM_015178.3(RHOBTB2):c.296+29G>T rs2466179 0.82262
NM_015178.3(RHOBTB2):c.2129C>T (p.Pro710Leu) rs146723409 0.00064
NM_015178.3(RHOBTB2):c.1681G>A (p.Gly561Ser) rs372306607 0.00004
NM_015178.3(RHOBTB2):c.1039G>A (p.Val347Met) rs762216794 0.00003
NM_015178.3(RHOBTB2):c.1621G>A (p.Val541Met) rs1328047091 0.00001
NM_015178.3(RHOBTB2):c.1834G>A (p.Val612Ile) rs1158005108 0.00001
NM_015178.3(RHOBTB2):c.2038C>T (p.Arg680Trp) rs767630251 0.00001
NM_015178.3(RHOBTB2):c.332A>G (p.Asn111Ser) rs766119429 0.00001
NM_015178.3(RHOBTB2):c.779T>C (p.Leu260Pro) rs1018003807 0.00001
NM_001330260.2(SCN8A):c.1179G>T (p.Leu393Phe)
NM_015178.3(RHOBTB2):c.103G>T (p.Ala35Ser)
NM_015178.3(RHOBTB2):c.1216A>G (p.Thr406Ala) rs2128804901
NM_015178.3(RHOBTB2):c.1331A>G (p.Asp444Gly)
NM_015178.3(RHOBTB2):c.1342A>G (p.Ile448Val)
NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly) rs1554504656
NM_015178.3(RHOBTB2):c.1376A>G (p.Asp459Gly) rs1811011518
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015178.3(RHOBTB2):c.1406A>G (p.Asn469Ser)
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp) rs1554504678
NM_015178.3(RHOBTB2):c.1465C>G (p.Arg489Gly) rs1554504681
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln) rs1554504684
NM_015178.3(RHOBTB2):c.1488del (p.Gly497fs) rs1376454917
NM_015178.3(RHOBTB2):c.1541A>G (p.His514Arg) rs2128805194
NM_015178.3(RHOBTB2):c.1702G>T (p.Asp568Tyr)
NM_015178.3(RHOBTB2):c.1837C>G (p.Leu613Val) rs753611203
NM_015178.3(RHOBTB2):c.2034C>G (p.Tyr678Ter)
NM_015178.3(RHOBTB2):c.208C>T (p.Arg70Ter) rs1215059455
NM_015178.3(RHOBTB2):c.2102G>C (p.Trp701Ser) rs1811324175
NM_015178.3(RHOBTB2):c.2140G>A (p.Ala714Thr)
NM_015178.3(RHOBTB2):c.276C>G (p.Asp92Glu)
NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter) rs1585190351
NM_015178.3(RHOBTB2):c.494C>A (p.Pro165His)
NM_015178.3(RHOBTB2):c.56T>C (p.Val19Ala) rs1810887469
NM_015178.3(RHOBTB2):c.610A>T (p.Ile204Phe)
NM_015178.3(RHOBTB2):c.651G>T (p.Trp217Cys)
NM_015178.3(RHOBTB2):c.713C>T (p.Pro238Leu)
NM_015178.3(RHOBTB2):c.935G>T (p.Gly312Val) rs1414103849
NM_015178.3(RHOBTB2):c.945C>A (p.His315Gln)
NM_015178.3(RHOBTB2):c.978C>A (p.His326Gln) rs559073741

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