ClinVar Miner

List of variants in gene ADCY5 studied for Inborn genetic diseases

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_183357.3(ADCY5):c.1285-6C>T rs77442307 0.00468
NM_183357.3(ADCY5):c.910G>A (p.Ala304Thr) rs138488088 0.00043
NM_183357.3(ADCY5):c.145T>G (p.Ser49Ala) rs921195392 0.00020
NM_183357.3(ADCY5):c.304G>A (p.Ala102Thr) rs548282891 0.00015
NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser) rs988224463 0.00012
NM_183357.3(ADCY5):c.2116G>A (p.Ala706Thr) rs376898099 0.00004
NM_183357.3(ADCY5):c.455G>A (p.Arg152His) rs1003462457 0.00004
NM_183357.3(ADCY5):c.1646+1G>A rs746547282 0.00003
NM_183357.3(ADCY5):c.463T>G (p.Ser155Ala) rs1167734608 0.00001
NM_183357.3(ADCY5):c.467T>A (p.Val156Glu) rs1440236095 0.00001
NM_183357.3(ADCY5):c.1007T>C (p.Ile336Thr)
NM_183357.3(ADCY5):c.1036C>G (p.Arg346Gly)
NM_183357.3(ADCY5):c.1134+31208G>A
NM_183357.3(ADCY5):c.1184G>A (p.Cys395Tyr)
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_183357.3(ADCY5):c.1312C>T (p.Arg438Cys)
NM_183357.3(ADCY5):c.1312dup (p.Arg438fs) rs1553732126
NM_183357.3(ADCY5):c.1425C>G (p.Ile475Met) rs757156390
NM_183357.3(ADCY5):c.16A>G (p.Ser6Gly)
NM_183357.3(ADCY5):c.1877G>A (p.Gly626Asp)
NM_183357.3(ADCY5):c.1879G>A (p.Glu627Lys)
NM_183357.3(ADCY5):c.2015C>T (p.Pro672Leu)
NM_183357.3(ADCY5):c.2272GAC[1] (p.Asp759del) rs780518999
NM_183357.3(ADCY5):c.2446T>C (p.Phe816Leu)
NM_183357.3(ADCY5):c.2554A>C (p.Asn852His)
NM_183357.3(ADCY5):c.2575A>G (p.Arg859Gly)
NM_183357.3(ADCY5):c.2860C>T (p.Leu954Phe)
NM_183357.3(ADCY5):c.2890G>T (p.Ala964Ser)
NM_183357.3(ADCY5):c.2976C>G (p.Ile992Met)
NM_183357.3(ADCY5):c.2984C>T (p.Ser995Leu)
NM_183357.3(ADCY5):c.3037C>T (p.Arg1013Cys) rs1365372289
NM_183357.3(ADCY5):c.3109C>T (p.Arg1037Trp)
NM_183357.3(ADCY5):c.3302A>G (p.Asn1101Ser)
NM_183357.3(ADCY5):c.3457G>A (p.Asp1153Asn)
NM_183357.3(ADCY5):c.3646G>A (p.Asp1216Asn)
NM_183357.3(ADCY5):c.3695C>T (p.Thr1232Met)
NM_183357.3(ADCY5):c.407G>C (p.Gly136Ala)
NM_183357.3(ADCY5):c.409G>C (p.Gly137Arg)
NM_183357.3(ADCY5):c.409_428del (p.Gly137fs) rs1553751262
NM_183357.3(ADCY5):c.409_428dup (p.Ser145fs) rs1553751262
NM_183357.3(ADCY5):c.412G>C (p.Gly138Arg)
NM_183357.3(ADCY5):c.437C>T (p.Ala146Val)
NM_183357.3(ADCY5):c.457C>T (p.Pro153Ser)
NM_183357.3(ADCY5):c.458C>T (p.Pro153Leu)
NM_183357.3(ADCY5):c.505G>A (p.Ala169Thr)
NM_183357.3(ADCY5):c.602C>T (p.Ala201Val) rs765913842
NM_183357.3(ADCY5):c.611C>T (p.Ser204Phe)
NM_183357.3(ADCY5):c.667T>C (p.Ser223Pro)
NM_183357.3(ADCY5):c.67C>G (p.Arg23Gly)
NM_183357.3(ADCY5):c.764T>A (p.Val255Asp)
NM_183357.3(ADCY5):c.973G>T (p.Ala325Ser)
NM_183357.3(ADCY5):c.977C>T (p.Ser326Phe)

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