ClinVar Miner

List of variants in gene ADCY5 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_183357.3(ADCY5):c.1285-6C>T rs77442307 0.00468
NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp) rs61734561 0.00451
NM_183357.3(ADCY5):c.3012C>T (p.His1004=) rs142086014 0.00301
NM_183357.3(ADCY5):c.2347G>A (p.Val783Met) rs147630334 0.00083
NM_183357.3(ADCY5):c.55G>A (p.Ala19Thr) rs550254165 0.00083
NM_183357.3(ADCY5):c.2818G>A (p.Glu940Lys) rs113442895 0.00075
NM_183357.3(ADCY5):c.816C>A (p.Ala272=) rs199689389 0.00064
NM_183357.3(ADCY5):c.3253G>A (p.Val1085Ile) rs149775261 0.00031
NM_183357.3(ADCY5):c.2645C>T (p.Ala882Val) rs112913957 0.00023
NM_183357.3(ADCY5):c.242C>T (p.Pro81Leu) rs77439349 0.00016
NM_183357.3(ADCY5):c.2845G>A (p.Val949Met) rs151227955 0.00013
NM_183357.3(ADCY5):c.3684G>A (p.Leu1228=) rs141058563 0.00013
NM_183357.3(ADCY5):c.2838C>T (p.Ile946=) rs375200141 0.00012
NM_183357.3(ADCY5):c.2871C>T (p.Asn957=) rs142142140 0.00011
NM_183357.3(ADCY5):c.1935C>T (p.Cys645=) rs758031427 0.00004
NM_183357.3(ADCY5):c.3669C>T (p.Asp1223=) rs140908742 0.00004
NM_183357.3(ADCY5):c.1806-7C>G rs377157807 0.00003
NM_183357.3(ADCY5):c.2033G>A (p.Arg678His) rs368851720 0.00003
NM_183357.3(ADCY5):c.2632G>T (p.Ala878Ser) rs146316902 0.00003
NM_183357.3(ADCY5):c.3312C>T (p.Ile1104=) rs774740790 0.00003
NM_183357.3(ADCY5):c.825G>A (p.Ala275=) rs766485152 0.00003
NM_183357.3(ADCY5):c.2346C>T (p.Ile782=) rs141961407 0.00002
NM_183357.3(ADCY5):c.146C>T (p.Ser49Phe) rs762609054 0.00001
NM_183357.3(ADCY5):c.150C>G (p.Ala50=) rs1387460227 0.00001
NM_183357.3(ADCY5):c.1795G>A (p.Gly599Ser) rs1371552129 0.00001
NM_183357.3(ADCY5):c.1835A>G (p.Asn612Ser) rs755428324 0.00001
NM_183357.3(ADCY5):c.1855G>A (p.Glu619Lys) rs571136152 0.00001
NM_183357.3(ADCY5):c.2436C>T (p.Cys812=) rs752648150 0.00001
NM_183357.3(ADCY5):c.2634G>A (p.Ala878=) rs746807102 0.00001
NM_183357.3(ADCY5):c.1045G>T (p.Ala349Ser)
NM_183357.3(ADCY5):c.1108G>A (p.Ala370Thr)
NM_183357.3(ADCY5):c.1126C>T (p.Leu376=)
NM_183357.3(ADCY5):c.1134+31207A>G
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln) rs864309515
NM_183357.3(ADCY5):c.1377G>T (p.Lys459Asn) rs1064797296
NM_183357.3(ADCY5):c.1503T>C (p.Phe501=)
NM_183357.3(ADCY5):c.1519-5T>C rs889586062
NM_183357.3(ADCY5):c.1566C>T (p.Cys522=)
NM_183357.3(ADCY5):c.1698C>T (p.His566=)
NM_183357.3(ADCY5):c.2165G>A (p.Arg722His) rs1553725039
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr) rs796065306
NM_183357.3(ADCY5):c.2307G>A (p.Ser769=) rs200652199
NM_183357.3(ADCY5):c.2373C>T (p.Ser791=)
NM_183357.3(ADCY5):c.2641G>A (p.Val881Met)
NM_183357.3(ADCY5):c.2896G>A (p.Ala966Thr)
NM_183357.3(ADCY5):c.2908T>C (p.Phe970Leu)
NM_183357.3(ADCY5):c.2934T>G (p.Pro978=)
NM_183357.3(ADCY5):c.3073G>A (p.Glu1025Lys) rs1553717792
NM_183357.3(ADCY5):c.3623G>A (p.Arg1208His) rs1064797295
NM_183357.3(ADCY5):c.3642A>G (p.Val1214=)
NM_183357.3(ADCY5):c.3658-3C>T rs1401020870
NM_183357.3(ADCY5):c.428_443del (p.Ala143fs) rs2107658867
NM_183357.3(ADCY5):c.441C>G (p.Gly147=) rs1576704530
NM_183357.3(ADCY5):c.556G>C (p.Asp186His) rs1576704397
NM_183357.3(ADCY5):c.6C>G (p.Ser2=)
NM_183357.3(ADCY5):c.873C>T (p.Ala291=)
NM_183357.3(ADCY5):c.996C>A (p.Thr332=)

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