ClinVar Miner

List of variants studied for autosomal dominant non-syndromic intellectual disability by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.1557C>G (p.Ser519Arg) rs1583026835 0.00001
NM_001348323.3(TRIP12):c.1012C>T (p.Gln338Ter)
NM_001348323.3(TRIP12):c.5452_5453delinsAAACAAATTGTAAATTGTACCA (p.Pro1818fs)
NM_001374828.1(ARID1B):c.2762G>T (p.Gly921Val) rs2128633891
NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro) rs1794550318
NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn) rs2153222922
NM_003108.4(SOX11):c.1148del (p.Gly383fs)
NM_004859.4(CLTC):c.1976C>G (p.Ser659Ter)
NM_004859.4(CLTC):c.2438del (p.Pro813fs)
NM_004859.4(CLTC):c.3470T>A (p.Leu1157Ter) rs2143593640
NM_005121.3(MED13):c.5774T>C (p.Ile1925Thr)
NM_005121.3(MED13):c.6319G>A (p.Val2107Met)
NM_005862.3(STAG1):c.391C>T (p.Arg131Ter) rs1937166346
NM_006734.4(HIVEP2):c.2367del (p.Gly791fs)
NM_006734.4(HIVEP2):c.875C>T (p.Ser292Phe) rs778324073
NM_017635.5(KMT5B):c.1183C>T (p.Arg395Ter)
NM_018489.3(ASH1L):c.2668A>G (p.Arg890Gly)
NM_019842.4(KCNQ5):c.1312C>T (p.Arg438Ter) rs750114221
NM_024665.7(TBL1XR1):c.419dup (p.Ile141fs) rs2108496178
NM_057175.5(NAA15):c.1796_1798del (p.Gln599del)
NM_057175.5(NAA15):c.1933G>A (p.Glu645Lys)
NM_130797.4(DPP6):c.1033C>T (p.Pro345Ser)
NM_198859.4(PRICKLE2):c.600G>C (p.Glu200Asp)
NM_205768.3(ZBTB18):c.753_754del (p.Ser252fs) rs1698415634

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