ClinVar Miner

List of variants reported as uncertain significance for communication disorder

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_016256.4(NAGPA):c.982C>T (p.Arg328Cys) rs139526942 0.00062
NM_007347.5(AP4E1):c.613C>A (p.His205Asn) rs148499164 0.00052
NM_016256.4(NAGPA):c.252C>G (p.His84Gln) rs755458782 0.00049
NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr) rs200983489 0.00021
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_007347.5(AP4E1):c.2813A>G (p.Asp938Gly) rs372620158 0.00006
NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser) rs150743968 0.00005
NM_024795.4(TM4SF20):c.271A>G (p.Ser91Gly) rs1422064104 0.00001
NM_007347.5(AP4E1):c.1675A>C (p.Thr559Pro) rs1176175925
NM_007347.5(AP4E1):c.382C>T (p.His128Tyr) rs2063738778
NM_007347.5(AP4E1):c.617T>C (p.Ile206Thr) rs1264635526
NM_024795.4(TM4SF20):c.510G>A (p.Trp170Ter)
NM_173081.5(ARMC3):c.916+1G>A rs767509621
NM_183357.3(ADCY5):c.649del (p.Arg217fs) rs1057518757

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