ClinVar Miner

List of variants reported as not provided for syndromic intellectual disability by GenomeConnect, ClinGen

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His) rs750153892 0.00004
NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys) rs750459659 0.00004
NM_001015877.2(PHF6):c.233C>T (p.Thr78Met) rs767406620 0.00002
NM_007325.5(GRIA3):c.609G>T (p.Arg203Ser) rs147567539 0.00002
NM_004187.5(KDM5C):c.4286C>T (p.Pro1429Leu) rs1556832824 0.00001
NM_007118.4(TRIO):c.8119C>T (p.Arg2707Ter) rs747166529 0.00001
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter) rs372375423 0.00001
NM_030665.4(RAI1):c.3478C>T (p.Arg1160Trp) rs761044841 0.00001
GRCh37/hg19 16p13.11(chr16:15154115-16276115)
GRCh37/hg19 8q22.2(chr8:100133404-100133674)x1
GRCh37/hg19 Xq28(chrX:154124170-154528181)x3
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys) rs1448764008
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys) rs2148019913
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001110792.2(MECP2):c.413+5G>A rs2148666320
NM_001190274.2(FBXO11):c.2084G>A (p.Gly695Asp) rs2104658680
NM_001272071.2(AP1S2):c.40C>T (p.Arg14Ter) rs1555904878
NM_001282531.3(ADNP):c.82_85del (p.Leu28fs) rs1982227129
NM_001356.5(DDX3X):c.629C>T (p.Ala210Val)
NM_001356.5(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001356.5(DDX3X):c.862A>G (p.Lys288Glu) rs1064796820
NM_001371928.1(AHDC1):c.1167del (p.Arg389fs) rs1553159581
NM_001371928.1(AHDC1):c.1169del (p.Pro390fs) rs1553159575
NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser) rs1555408829
NM_003070.5(SMARCA2):c.2561A>G (p.His854Arg) rs281875202
NM_004187.5(KDM5C):c.470A>G (p.Tyr157Cys) rs1556852793
NM_007118.4(TRIO):c.7049C>G (p.Pro2350Arg) rs754870679
NM_013275.6(ANKRD11):c.3701A>G (p.Asn1234Ser) rs2151753726
NM_013275.6(ANKRD11):c.6581A>G (p.Gln2194Arg) rs1364705691
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038
NM_015107.3(PHF8):c.-60C>T rs1557116325
NM_031407.7(HUWE1):c.6976G>T (p.Asp2326Tyr) rs1569448303
NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His) rs2061745581
NM_152564.5(VPS13B):c.3397C>T (p.Pro1133Ser) rs781781537
Single allele

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