ClinVar Miner

List of variants in gene ATG2A reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_015104.3(ATG2A):c.1061A>T (p.Asn354Ile)
NM_015104.3(ATG2A):c.106G>C (p.Asp36His)
NM_015104.3(ATG2A):c.1081A>G (p.Asn361Asp)
NM_015104.3(ATG2A):c.1181G>A (p.Arg394His)
NM_015104.3(ATG2A):c.1186G>A (p.Asp396Asn)
NM_015104.3(ATG2A):c.1199G>A (p.Arg400His)
NM_015104.3(ATG2A):c.1199G>T (p.Arg400Leu)
NM_015104.3(ATG2A):c.1201C>T (p.Arg401Trp)
NM_015104.3(ATG2A):c.1229G>A (p.Gly410Asp)
NM_015104.3(ATG2A):c.1261A>G (p.Met421Val)
NM_015104.3(ATG2A):c.1262T>C (p.Met421Thr)
NM_015104.3(ATG2A):c.1274C>T (p.Ser425Leu)
NM_015104.3(ATG2A):c.1300G>A (p.Val434Met)
NM_015104.3(ATG2A):c.1327G>A (p.Ala443Thr)
NM_015104.3(ATG2A):c.1346C>G (p.Pro449Arg)
NM_015104.3(ATG2A):c.1433G>T (p.Arg478Leu)
NM_015104.3(ATG2A):c.1439A>G (p.Gln480Arg)
NM_015104.3(ATG2A):c.1483G>A (p.Val495Met)
NM_015104.3(ATG2A):c.1495T>C (p.Trp499Arg)
NM_015104.3(ATG2A):c.1507A>T (p.Thr503Ser)
NM_015104.3(ATG2A):c.1508C>A (p.Thr503Lys)
NM_015104.3(ATG2A):c.1516C>T (p.Arg506Trp)
NM_015104.3(ATG2A):c.1517G>A (p.Arg506Gln)
NM_015104.3(ATG2A):c.1537A>G (p.Met513Val)
NM_015104.3(ATG2A):c.157C>T (p.His53Tyr)
NM_015104.3(ATG2A):c.1592C>T (p.Thr531Ile)
NM_015104.3(ATG2A):c.1628C>G (p.Pro543Arg)
NM_015104.3(ATG2A):c.1658G>A (p.Arg553Gln)
NM_015104.3(ATG2A):c.1693C>T (p.Arg565Cys)
NM_015104.3(ATG2A):c.1712G>A (p.Arg571Gln)
NM_015104.3(ATG2A):c.1714C>T (p.Pro572Ser)
NM_015104.3(ATG2A):c.1718G>A (p.Arg573Gln)
NM_015104.3(ATG2A):c.1783G>A (p.Val595Met)
NM_015104.3(ATG2A):c.1795G>T (p.Ala599Ser)
NM_015104.3(ATG2A):c.179A>T (p.Asn60Ile)
NM_015104.3(ATG2A):c.1822C>T (p.Arg608Cys)
NM_015104.3(ATG2A):c.1823G>A (p.Arg608His)
NM_015104.3(ATG2A):c.1847C>A (p.Pro616His)
NM_015104.3(ATG2A):c.1895C>T (p.Thr632Met)
NM_015104.3(ATG2A):c.1919G>T (p.Arg640Leu)
NM_015104.3(ATG2A):c.1925C>T (p.Thr642Met)
NM_015104.3(ATG2A):c.1971C>G (p.Asp657Glu)
NM_015104.3(ATG2A):c.197T>C (p.Met66Thr)
NM_015104.3(ATG2A):c.1987G>C (p.Ala663Pro)
NM_015104.3(ATG2A):c.199G>C (p.Glu67Gln)
NM_015104.3(ATG2A):c.2042A>G (p.Glu681Gly)
NM_015104.3(ATG2A):c.2059G>A (p.Gly687Ser)
NM_015104.3(ATG2A):c.2086C>G (p.Leu696Val)
NM_015104.3(ATG2A):c.2093G>T (p.Cys698Phe)
NM_015104.3(ATG2A):c.2098G>A (p.Asp700Asn)
NM_015104.3(ATG2A):c.2108G>T (p.Gly703Val)
NM_015104.3(ATG2A):c.2111T>C (p.Ile704Thr)
NM_015104.3(ATG2A):c.2150G>A (p.Arg717His)
NM_015104.3(ATG2A):c.2167G>T (p.Asp723Tyr)
NM_015104.3(ATG2A):c.2237G>T (p.Ser746Ile)
NM_015104.3(ATG2A):c.2308C>T (p.Arg770Trp)
NM_015104.3(ATG2A):c.2342G>C (p.Arg781Thr)
NM_015104.3(ATG2A):c.236C>T (p.Ser79Phe)
NM_015104.3(ATG2A):c.2473C>G (p.Pro825Ala)
NM_015104.3(ATG2A):c.2566G>A (p.Ala856Thr)
NM_015104.3(ATG2A):c.2590G>A (p.Gly864Ser)
NM_015104.3(ATG2A):c.2590G>C (p.Gly864Arg)
NM_015104.3(ATG2A):c.2632T>A (p.Ser878Thr)
NM_015104.3(ATG2A):c.2688C>G (p.Asp896Glu)
NM_015104.3(ATG2A):c.2696C>T (p.Ala899Val)
NM_015104.3(ATG2A):c.2725G>A (p.Gly909Ser)
NM_015104.3(ATG2A):c.2735C>T (p.Ala912Val)
NM_015104.3(ATG2A):c.2765T>C (p.Leu922Ser)
NM_015104.3(ATG2A):c.2807G>A (p.Arg936Gln)
NM_015104.3(ATG2A):c.2812A>G (p.Thr938Ala)
NM_015104.3(ATG2A):c.289C>T (p.Arg97Cys)
NM_015104.3(ATG2A):c.2953G>A (p.Glu985Lys)
NM_015104.3(ATG2A):c.2989G>A (p.Val997Met)
NM_015104.3(ATG2A):c.298G>A (p.Gly100Ser)
NM_015104.3(ATG2A):c.2992G>C (p.Asp998His)
NM_015104.3(ATG2A):c.3008C>G (p.Pro1003Arg)
NM_015104.3(ATG2A):c.3025C>T (p.Pro1009Ser)
NM_015104.3(ATG2A):c.3041C>T (p.Pro1014Leu)
NM_015104.3(ATG2A):c.3058A>G (p.Thr1020Ala)
NM_015104.3(ATG2A):c.3092G>A (p.Arg1031Gln)
NM_015104.3(ATG2A):c.3125G>T (p.Gly1042Val)
NM_015104.3(ATG2A):c.3171C>A (p.His1057Gln)
NM_015104.3(ATG2A):c.3203G>A (p.Arg1068Gln)
NM_015104.3(ATG2A):c.3230A>C (p.Tyr1077Ser)
NM_015104.3(ATG2A):c.3244G>A (p.Glu1082Lys)
NM_015104.3(ATG2A):c.325C>T (p.Arg109Trp)
NM_015104.3(ATG2A):c.3280G>C (p.Asp1094His)
NM_015104.3(ATG2A):c.3282C>G (p.Asp1094Glu)
NM_015104.3(ATG2A):c.3283G>A (p.Val1095Met)
NM_015104.3(ATG2A):c.3307T>C (p.Tyr1103His)
NM_015104.3(ATG2A):c.3320C>T (p.Thr1107Met)
NM_015104.3(ATG2A):c.335C>T (p.Ala112Val)
NM_015104.3(ATG2A):c.3391C>T (p.Arg1131Cys)
NM_015104.3(ATG2A):c.3392G>A (p.Arg1131His)
NM_015104.3(ATG2A):c.3515A>T (p.Glu1172Val)
NM_015104.3(ATG2A):c.3533G>A (p.Arg1178Gln)
NM_015104.3(ATG2A):c.3563T>G (p.Leu1188Arg)
NM_015104.3(ATG2A):c.3599C>T (p.Thr1200Ile)
NM_015104.3(ATG2A):c.3601G>A (p.Glu1201Lys)
NM_015104.3(ATG2A):c.3628G>C (p.Glu1210Gln)
NM_015104.3(ATG2A):c.3644A>G (p.Asn1215Ser)
NM_015104.3(ATG2A):c.3709G>A (p.Val1237Ile)
NM_015104.3(ATG2A):c.370T>C (p.Cys124Arg)
NM_015104.3(ATG2A):c.3736C>A (p.Pro1246Thr)
NM_015104.3(ATG2A):c.3737C>G (p.Pro1246Arg)
NM_015104.3(ATG2A):c.3743G>C (p.Arg1248Pro)
NM_015104.3(ATG2A):c.3758C>T (p.Thr1253Met)
NM_015104.3(ATG2A):c.3789T>A (p.Ser1263Arg)
NM_015104.3(ATG2A):c.3814C>G (p.Pro1272Ala)
NM_015104.3(ATG2A):c.3824C>T (p.Thr1275Met)
NM_015104.3(ATG2A):c.3842G>A (p.Arg1281His)
NM_015104.3(ATG2A):c.3874C>T (p.Arg1292Cys)
NM_015104.3(ATG2A):c.3875G>A (p.Arg1292His)
NM_015104.3(ATG2A):c.3883C>T (p.Arg1295Trp)
NM_015104.3(ATG2A):c.3901T>C (p.Ser1301Pro)
NM_015104.3(ATG2A):c.3958C>T (p.Arg1320Trp)
NM_015104.3(ATG2A):c.3973C>G (p.Pro1325Ala)
NM_015104.3(ATG2A):c.4007G>A (p.Ser1336Asn)
NM_015104.3(ATG2A):c.4027G>C (p.Glu1343Gln)
NM_015104.3(ATG2A):c.4100C>T (p.Ala1367Val)
NM_015104.3(ATG2A):c.410G>A (p.Arg137Gln)
NM_015104.3(ATG2A):c.4168G>A (p.Val1390Ile)
NM_015104.3(ATG2A):c.4204A>C (p.Ser1402Arg)
NM_015104.3(ATG2A):c.4208C>T (p.Thr1403Met)
NM_015104.3(ATG2A):c.4216C>A (p.Leu1406Met)
NM_015104.3(ATG2A):c.422C>T (p.Pro141Leu)
NM_015104.3(ATG2A):c.4265G>A (p.Arg1422His)
NM_015104.3(ATG2A):c.4279G>A (p.Val1427Ile)
NM_015104.3(ATG2A):c.4321G>A (p.Gly1441Ser)
NM_015104.3(ATG2A):c.433G>A (p.Glu145Lys)
NM_015104.3(ATG2A):c.4354A>G (p.Arg1452Gly)
NM_015104.3(ATG2A):c.4369C>T (p.Arg1457Cys)
NM_015104.3(ATG2A):c.4370G>A (p.Arg1457His)
NM_015104.3(ATG2A):c.4385A>C (p.Asn1462Thr)
NM_015104.3(ATG2A):c.4388G>A (p.Arg1463Gln)
NM_015104.3(ATG2A):c.4412A>G (p.Gln1471Arg)
NM_015104.3(ATG2A):c.4514C>A (p.Ala1505Glu)
NM_015104.3(ATG2A):c.4567G>A (p.Val1523Met)
NM_015104.3(ATG2A):c.4586G>A (p.Arg1529Gln)
NM_015104.3(ATG2A):c.4717G>A (p.Gly1573Arg)
NM_015104.3(ATG2A):c.4736G>A (p.Arg1579His)
NM_015104.3(ATG2A):c.4738G>A (p.Val1580Ile)
NM_015104.3(ATG2A):c.4750C>T (p.Pro1584Ser)
NM_015104.3(ATG2A):c.4819G>A (p.Gly1607Ser)
NM_015104.3(ATG2A):c.4831G>A (p.Val1611Met)
NM_015104.3(ATG2A):c.4862G>A (p.Arg1621His)
NM_015104.3(ATG2A):c.4915G>A (p.Val1639Ile)
NM_015104.3(ATG2A):c.494G>A (p.Arg165Gln)
NM_015104.3(ATG2A):c.5009C>T (p.Thr1670Met)
NM_015104.3(ATG2A):c.5011T>C (p.Ser1671Pro)
NM_015104.3(ATG2A):c.502A>C (p.Lys168Gln)
NM_015104.3(ATG2A):c.5050G>A (p.Val1684Ile)
NM_015104.3(ATG2A):c.5116G>C (p.Glu1706Gln)
NM_015104.3(ATG2A):c.5213A>G (p.Lys1738Arg)
NM_015104.3(ATG2A):c.5253G>A (p.Met1751Ile)
NM_015104.3(ATG2A):c.5284C>T (p.Arg1762Trp)
NM_015104.3(ATG2A):c.5335A>C (p.Met1779Leu)
NM_015104.3(ATG2A):c.5348A>G (p.Gln1783Arg)
NM_015104.3(ATG2A):c.5407C>T (p.Arg1803Trp)
NM_015104.3(ATG2A):c.545C>T (p.Pro182Leu)
NM_015104.3(ATG2A):c.5479C>T (p.Arg1827Cys)
NM_015104.3(ATG2A):c.548G>A (p.Gly183Asp)
NM_015104.3(ATG2A):c.5492A>T (p.Asp1831Val)
NM_015104.3(ATG2A):c.5506C>T (p.Arg1836Trp)
NM_015104.3(ATG2A):c.5507G>A (p.Arg1836Gln)
NM_015104.3(ATG2A):c.5515C>T (p.Arg1839Cys)
NM_015104.3(ATG2A):c.5614G>A (p.Val1872Met)
NM_015104.3(ATG2A):c.5648C>G (p.Thr1883Arg)
NM_015104.3(ATG2A):c.5656G>A (p.Val1886Met)
NM_015104.3(ATG2A):c.5672G>A (p.Arg1891His)
NM_015104.3(ATG2A):c.5687C>T (p.Thr1896Ile)
NM_015104.3(ATG2A):c.5710G>A (p.Ala1904Thr)
NM_015104.3(ATG2A):c.5714C>T (p.Thr1905Met)
NM_015104.3(ATG2A):c.571G>A (p.Val191Ile)
NM_015104.3(ATG2A):c.5729G>A (p.Ser1910Asn)
NM_015104.3(ATG2A):c.5747G>A (p.Arg1916His)
NM_015104.3(ATG2A):c.5757T>G (p.Ile1919Met)
NM_015104.3(ATG2A):c.580C>T (p.Arg194Cys)
NM_015104.3(ATG2A):c.629A>T (p.Gln210Leu)
NM_015104.3(ATG2A):c.646G>T (p.Val216Leu)
NM_015104.3(ATG2A):c.650A>C (p.His217Pro)
NM_015104.3(ATG2A):c.658C>A (p.Pro220Thr)
NM_015104.3(ATG2A):c.712G>A (p.Glu238Lys)
NM_015104.3(ATG2A):c.719C>T (p.Pro240Leu)
NM_015104.3(ATG2A):c.757G>A (p.Gly253Ser)
NM_015104.3(ATG2A):c.761G>A (p.Ser254Asn)
NM_015104.3(ATG2A):c.836C>T (p.Ala279Val)
NM_015104.3(ATG2A):c.839G>A (p.Gly280Glu)
NM_015104.3(ATG2A):c.865C>G (p.Leu289Val)
NM_015104.3(ATG2A):c.932G>A (p.Gly311Asp)
NM_015104.3(ATG2A):c.932G>T (p.Gly311Val)

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