ClinVar Miner

List of variants reported as likely pathogenic for syndromic intellectual disability by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met) rs122445106 0.00001
NM_001371928.1(AHDC1):c.4404C>A (p.Tyr1468Ter)
NM_001376.5(DYNC1H1):c.9751G>A (p.Glu3251Lys) rs2152590264
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_004187.5(KDM5C):c.3656T>G (p.Leu1219Arg)
NM_004380.3(CREBBP):c.4812del (p.Asn1604fs)
NM_005048.4(PTH2R):c.473C>T (p.Ser158Phe) rs1553546045
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_013275.6(ANKRD11):c.7663T>C (p.Cys2555Arg)
NM_019023.5(PRMT7):c.457dup (p.Glu153fs) rs2151701931
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys) rs1555988422

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