ClinVar Miner

List of variants studied for autosomal dominant non-syndromic intellectual disability by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_057175.5(NAA15):c.382C>T (p.Arg128Ter) rs1274633498 0.00001
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val) rs2142884433
NM_001321075.3(DLG4):c.981_982dup (p.Val328fs)
NM_001374828.1(ARID1B):c.1870C>T (p.Gln624Ter) rs754167205
NM_001374828.1(ARID1B):c.3312dup (p.Glu1105fs) rs1791918216
NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter) rs773740590
NM_001374828.1(ARID1B):c.6623_6650dup (p.Asn2217_Asn2218insProLeuTer) rs1554237992
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_002397.5(MEF2C):c.638-2A>C rs1554102556
NM_003011.4(SET):c.418_419del (p.Ser140fs) rs1589460606
NM_003072.5(SMARCA4):c.1675G>A (p.Glu559Lys) rs1600082188
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003108.4(SOX11):c.146T>G (p.Ile49Ser)
NM_003108.4(SOX11):c.250G>C (p.Gly84Arg)
NM_003108.4(SOX11):c.353A>C (p.Tyr118Ser) rs1572216329
NM_004859.4(CLTC):c.1745C>T (p.Thr582Met)
NM_006734.4(HIVEP2):c.3678dup (p.Gln1227fs)
NM_006852.6(TLK2):c.968+1G>C rs1598620094
NM_007118.4(TRIO):c.5619G>A (p.Met1873Ile)
NM_015981.4(CAMK2A):c.666C>A (p.Tyr222Ter)
NM_024665.7(TBL1XR1):c.524G>A (p.Cys175Tyr)
NM_024665.7(TBL1XR1):c.799G>T (p.Gly267Cys) rs1577017863
NM_024665.7(TBL1XR1):c.973_975dup (p.Cys325dup) rs1715105181
NM_057175.5(NAA15):c.430C>T (p.Arg144Ter) rs1560966086
NM_138459.5(NUS1):c.238_263del (p.Ala80fs) rs1582461267
NM_152641.4(ARID2):c.1784_1785del (p.His595fs) rs1943504725
NM_152641.4(ARID2):c.2114del (p.Ser705fs) rs1592118927
NM_152641.4(ARID2):c.4126_4142del (p.Ile1376fs)
NM_152641.4(ARID2):c.890C>T (p.Ser297Phe)
NM_205768.3(ZBTB18):c.1283T>G (p.Phe428Cys) rs1572531730
NM_205768.3(ZBTB18):c.1423C>G (p.His475Asp)

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