ClinVar Miner

List of variants in gene ADCY3, CENPO studied for ADCY3-related disorder

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_004036.5(ADCY3):c.3096C>T (p.Asn1032=) rs72792178 0.00571
NM_004036.5(ADCY3):c.3390T>C (p.Asn1130=) rs142510036 0.00086
NM_004036.5(ADCY3):c.3414_*3dup (p.His1138_Ter1145=) rs765793242 0.00009
NM_004036.5(ADCY3):c.3051C>T (p.Ala1017=) rs77454507 0.00007
NM_004036.5(ADCY3):c.3289G>A (p.Gly1097Ser) rs149824724 0.00007
NM_004036.5(ADCY3):c.*9G>A rs201348363 0.00006
NM_004036.5(ADCY3):c.3078G>A (p.Thr1026=) rs779611664 0.00003
NM_004036.5(ADCY3):c.3253-9C>T rs541665903 0.00003
NM_004036.5(ADCY3):c.3296G>A (p.Arg1099His) rs775633915 0.00003
NM_004036.5(ADCY3):c.3404C>T (p.Thr1135Ile) rs778587134 0.00003
NM_004036.5(ADCY3):c.3023A>C (p.Glu1008Ala) rs751871836 0.00002
NM_004036.5(ADCY3):c.3141C>T (p.Gly1047=) rs556248650 0.00002
NM_004036.5(ADCY3):c.3015C>T (p.Ser1005=) rs755247497 0.00001
NM_004036.5(ADCY3):c.3114C>T (p.Phe1038=) rs1483615736 0.00001
NM_004036.5(ADCY3):c.3125T>C (p.Ile1042Thr) rs752934161 0.00001
NM_004036.5(ADCY3):c.3183C>T (p.Tyr1061=) rs1402883983 0.00001
NM_004036.5(ADCY3):c.3222G>A (p.Met1074Ile) rs1157750996 0.00001
NM_004036.5(ADCY3):c.3231G>A (p.Thr1077=) rs761523411 0.00001
NM_004036.5(ADCY3):c.3252+5G>T rs776111289 0.00001
NM_004036.5(ADCY3):c.3004-24_3004-3del
NM_004036.5(ADCY3):c.3004-3C>T
NM_004036.5(ADCY3):c.3014C>G (p.Ser1005Cys)
NM_004036.5(ADCY3):c.3015C>A (p.Ser1005=)
NM_004036.5(ADCY3):c.3016G>A (p.Glu1006Lys)
NM_004036.5(ADCY3):c.3023_3024dup (p.Arg1009fs)
NM_004036.5(ADCY3):c.3060G>A (p.Ala1020=)
NM_004036.5(ADCY3):c.3079C>T (p.Leu1027Phe)
NM_004036.5(ADCY3):c.3128-8T>C
NM_004036.5(ADCY3):c.3128-8T>G rs2466568158
NM_004036.5(ADCY3):c.3133_3134dup (p.Asn1045fs)
NM_004036.5(ADCY3):c.3152C>A (p.Ala1051Asp)
NM_004036.5(ADCY3):c.3169C>T (p.Arg1057Trp)
NM_004036.5(ADCY3):c.3171G>A (p.Arg1057=)
NM_004036.5(ADCY3):c.3204C>T (p.Val1068=) rs1427403684
NM_004036.5(ADCY3):c.3216C>T (p.Ser1072=) rs2466563346
NM_004036.5(ADCY3):c.3235G>A (p.Val1079Ile) rs146553503
NM_004036.5(ADCY3):c.3237C>T (p.Val1079=)
NM_004036.5(ADCY3):c.3253-8C>T
NM_004036.5(ADCY3):c.3258A>G (p.Val1086=)
NM_004036.5(ADCY3):c.3303G>A (p.Val1101=)
NM_004036.5(ADCY3):c.3306G>A (p.Arg1102=)
NM_004036.5(ADCY3):c.3307C>A (p.Arg1103=) rs746113754
NM_004036.5(ADCY3):c.3307C>T (p.Arg1103Ter)
NM_004036.5(ADCY3):c.3325AAGGGG[3] (p.Gly1112_Glu1113insLysGly)
NM_004036.5(ADCY3):c.3329_3330del (p.Gly1110fs)
NM_004036.5(ADCY3):c.3335G>C (p.Gly1112Ala)
NM_004036.5(ADCY3):c.3348CTT[2] (p.Phe1118del) rs750852737
NM_004036.5(ADCY3):c.3364C>T (p.Arg1122Trp)
NM_004036.5(ADCY3):c.3366G>A (p.Arg1122=)
NM_004036.5(ADCY3):c.3398C>G (p.Ser1133Cys)
NM_004036.5(ADCY3):c.3423G>A (p.Val1141=)
NM_004036.5(ADCY3):c.3429C>A (p.Asn1143Lys)
NM_004036.5(ADCY3):c.3431C>A (p.Ser1144Tyr)

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