ClinVar Miner

List of variants reported as not provided for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (47):
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Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly) rs752026201 0.00007
NM_005862.3(STAG1):c.1189G>C (p.Val397Leu) rs201846240 0.00004
NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg) rs1471479119 0.00001
NM_152641.4(ARID2):c.5359C>T (p.Arg1787Cys) rs1457405698 0.00001
GRCh37/hg19 3q26.32(chr3:176755939-176756243)x1
NM_001321075.3(DLG4):c.150+4_150+5del
NM_001321075.3(DLG4):c.1598A>G (p.Tyr533Cys)
NM_001321075.3(DLG4):c.2074_2078delinsT (p.Val692fs) rs2142803273
NM_001321075.3(DLG4):c.910del (p.Glu304fs)
NM_001348323.3(TRIP12):c.1510C>T (p.Gln504Ter)
NM_001348323.3(TRIP12):c.3088_3089del (p.Gly1030fs)
NM_001374828.1(ARID1B):c.1099C>T (p.Gln367Ter) rs1583025138
NM_001374828.1(ARID1B):c.1227AGGAGGAGCAGGAGC[1] (p.411GAGAG[1]) rs773423003
NM_001374828.1(ARID1B):c.1400del (p.Gly467fs)
NM_001374828.1(ARID1B):c.1508del (p.Asn503fs) rs1583026682
NM_001374828.1(ARID1B):c.2073dup (p.His692fs) rs2128210922
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001374828.1(ARID1B):c.4150C>T (p.Gln1384Ter) rs1182325800
NM_001374828.1(ARID1B):c.5407del (p.Leu1803fs) rs1794427847
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001374828.1(ARID1B):c.6218A>G (p.Asn2073Ser)
NM_002397.5(MEF2C):c.411del (p.Pro138fs) rs1581753788
NM_002397.5(MEF2C):c.413del (p.Pro138fs) rs1581753587
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg) rs797045053
NM_003072.5(SMARCA4):c.4781A>G (p.Lys1594Arg) rs1555796197
NM_003072.5(SMARCA4):c.489G>T (p.Gly163=) rs1201612670
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_004859.4(CLTC):c.681+2dup rs1598214612
NM_006015.6(ARID1A):c.1325T>C (p.Met442Thr) rs2124785718
NM_006734.4(HIVEP2):c.5150dup (p.Leu1718fs) rs2114642634
NM_006852.6(TLK2):c.367C>T (p.Arg123Ter) rs758726258
NM_018489.3(ASH1L):c.1559A>G (p.Glu520Gly)
NM_018489.3(ASH1L):c.1603G>T (p.Gly535Ter)
NM_018489.3(ASH1L):c.2268G>C (p.Glu756Asp) rs2148727190
NM_018489.3(ASH1L):c.4593G>C (p.Lys1531Asn)
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs) rs1665684529
NM_018489.3(ASH1L):c.4909C>T (p.Gln1637Ter)
NM_205768.3(ZBTB18):c.1183C>T (p.Gln395Ter) rs875989786
NM_205768.3(ZBTB18):c.1397_1400dup (p.Val468fs)
NM_205768.3(ZBTB18):c.1408A>G (p.Thr470Ala) rs1572531923
NM_205768.3(ZBTB18):c.583C>T (p.Arg195Ter) rs1064792999

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