ClinVar Miner

List of variants in gene ADCY5 studied for neurodevelopmental disorder

Included ClinVar conditions (779):
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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_183357.3(ADCY5):c.2900+4T>C rs4482616 0.79906
NM_183357.3(ADCY5):c.3063+54G>A rs9881951 0.70241
NM_183357.3(ADCY5):c.1646+29C>A rs9829332 0.30133
NM_183357.3(ADCY5):c.1805+13T>C rs9855635 0.27704
NM_183357.3(ADCY5):c.3064-53C>T rs9809236 0.26927
NM_183357.3(ADCY5):c.1646+58G>A rs4678009 0.20807
NM_183357.3(ADCY5):c.2111+100T>C rs3935566 0.14134
NM_183357.3(ADCY5):c.2257-79T>C rs75867257 0.08808
NM_183357.3(ADCY5):c.3063+27G>A rs56407630 0.07867
NM_183357.3(ADCY5):c.2111+12G>A rs112050992 0.02098
NM_183357.3(ADCY5):c.351G>A (p.Arg117=) rs372095163 0.01954
NM_183357.3(ADCY5):c.3015C>A (p.Ala1005=) rs113525130 0.01406
NM_183357.3(ADCY5):c.753C>T (p.Leu251=) rs56194151 0.01246
NM_183357.3(ADCY5):c.3064-18G>A rs56301263 0.01164
NM_183357.3(ADCY5):c.1839C>T (p.Tyr613=) rs75364088 0.00539
NM_183357.3(ADCY5):c.1285-6C>T rs77442307 0.00468
NM_183357.3(ADCY5):c.3375C>T (p.Ile1125=) rs113566464 0.00342
NM_183357.3(ADCY5):c.3012C>T (p.His1004=) rs142086014 0.00301
NM_183357.3(ADCY5):c.2481C>A (p.Ile827=) rs75494273 0.00296
NM_183357.3(ADCY5):c.3532+20G>T rs146421646 0.00292
NM_183357.3(ADCY5):c.3777G>A (p.Pro1259=) rs112321119 0.00269
NM_183357.3(ADCY5):c.3696G>A (p.Thr1232=) rs140582739 0.00134
NM_183357.3(ADCY5):c.29C>T (p.Pro10Leu) rs143905423 0.00117
NM_183357.3(ADCY5):c.130C>T (p.His44Tyr) rs189868197 0.00096
NM_183357.3(ADCY5):c.816C>A (p.Ala272=) rs199689389 0.00064
NM_183357.3(ADCY5):c.1285-8C>A rs201309229 0.00029
NM_183357.3(ADCY5):c.963G>A (p.Gln321=) rs150947472 0.00025
NM_183357.3(ADCY5):c.242C>T (p.Pro81Leu) rs77439349 0.00016
NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser) rs988224463 0.00012
NM_183357.3(ADCY5):c.2033G>A (p.Arg678His) rs368851720 0.00003
NM_183357.3(ADCY5):c.178dup (p.Ala60fs) rs756172692
NM_183357.3(ADCY5):c.1947+1G>T rs2108384208
NM_183357.3(ADCY5):c.2162G>C (p.Gly721Ala)
NM_183357.3(ADCY5):c.3622C>T (p.Arg1208Cys)
NM_183357.3(ADCY5):c.3712C>T (p.Arg1238Trp) rs2108148749
NM_183357.3(ADCY5):c.412_428del (p.Gly138fs) rs1553751262

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