ClinVar Miner

List of variants in gene SEC16A reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_014866.2(SEC16A):c.1006C>T (p.Pro336Ser)
NM_014866.2(SEC16A):c.1012G>A (p.Ala338Thr)
NM_014866.2(SEC16A):c.106A>G (p.Asn36Asp)
NM_014866.2(SEC16A):c.107A>C (p.Asn36Thr)
NM_014866.2(SEC16A):c.109A>G (p.Asn37Asp)
NM_014866.2(SEC16A):c.1122G>A (p.Met374Ile)
NM_014866.2(SEC16A):c.1204G>A (p.Asp402Asn)
NM_014866.2(SEC16A):c.1211G>C (p.Cys404Ser)
NM_014866.2(SEC16A):c.1232G>A (p.Arg411His)
NM_014866.2(SEC16A):c.1255G>A (p.Gly419Arg)
NM_014866.2(SEC16A):c.1267C>T (p.Leu423Phe)
NM_014866.2(SEC16A):c.128C>T (p.Pro43Leu)
NM_014866.2(SEC16A):c.1346C>T (p.Pro449Leu)
NM_014866.2(SEC16A):c.1361C>T (p.Ser454Leu)
NM_014866.2(SEC16A):c.140C>T (p.Pro47Leu)
NM_014866.2(SEC16A):c.1459T>A (p.Phe487Ile)
NM_014866.2(SEC16A):c.1504G>C (p.Ala502Pro)
NM_014866.2(SEC16A):c.155C>T (p.Thr52Met)
NM_014866.2(SEC16A):c.1570A>G (p.Ser524Gly)
NM_014866.2(SEC16A):c.158A>C (p.Asp53Ala)
NM_014866.2(SEC16A):c.160C>G (p.Pro54Ala)
NM_014866.2(SEC16A):c.1753C>T (p.Arg585Cys)
NM_014866.2(SEC16A):c.1787C>T (p.Pro596Leu)
NM_014866.2(SEC16A):c.1789C>T (p.Pro597Ser)
NM_014866.2(SEC16A):c.1804A>G (p.Ile602Val)
NM_014866.2(SEC16A):c.1817G>A (p.Ser606Asn)
NM_014866.2(SEC16A):c.1819G>A (p.Ala607Thr)
NM_014866.2(SEC16A):c.1838C>T (p.Pro613Leu)
NM_014866.2(SEC16A):c.1859G>A (p.Gly620Glu)
NM_014866.2(SEC16A):c.1885G>A (p.Ala629Thr)
NM_014866.2(SEC16A):c.1915T>A (p.Cys639Ser)
NM_014866.2(SEC16A):c.191G>A (p.Ser64Asn)
NM_014866.2(SEC16A):c.1948G>A (p.Ala650Thr)
NM_014866.2(SEC16A):c.1952T>G (p.Leu651Arg)
NM_014866.2(SEC16A):c.1979A>G (p.Glu660Gly)
NM_014866.2(SEC16A):c.1996A>T (p.Met666Leu)
NM_014866.2(SEC16A):c.2026C>T (p.Pro676Ser)
NM_014866.2(SEC16A):c.2062A>G (p.Met688Val)
NM_014866.2(SEC16A):c.2069C>T (p.Pro690Leu)
NM_014866.2(SEC16A):c.2074G>A (p.Ala692Thr)
NM_014866.2(SEC16A):c.2157G>C (p.Glu719Asp)
NM_014866.2(SEC16A):c.2168C>T (p.Thr723Met)
NM_014866.2(SEC16A):c.2234C>T (p.Pro745Leu)
NM_014866.2(SEC16A):c.2237C>T (p.Ala746Val)
NM_014866.2(SEC16A):c.2333C>T (p.Pro778Leu)
NM_014866.2(SEC16A):c.2348G>A (p.Gly783Asp)
NM_014866.2(SEC16A):c.2391G>A (p.Met797Ile)
NM_014866.2(SEC16A):c.2419G>A (p.Ala807Thr)
NM_014866.2(SEC16A):c.2474A>G (p.Asn825Ser)
NM_014866.2(SEC16A):c.2490T>G (p.Ile830Met)
NM_014866.2(SEC16A):c.2498C>T (p.Pro833Leu)
NM_014866.2(SEC16A):c.2506A>G (p.Ser836Gly)
NM_014866.2(SEC16A):c.250G>A (p.Ala84Thr)
NM_014866.2(SEC16A):c.2512A>G (p.Asn838Asp)
NM_014866.2(SEC16A):c.251C>A (p.Ala84Glu)
NM_014866.2(SEC16A):c.2543C>T (p.Ser848Phe)
NM_014866.2(SEC16A):c.2555C>G (p.Ser852Cys)
NM_014866.2(SEC16A):c.2573C>G (p.Ser858Cys)
NM_014866.2(SEC16A):c.2573C>T (p.Ser858Phe)
NM_014866.2(SEC16A):c.2603C>T (p.Pro868Leu)
NM_014866.2(SEC16A):c.2626G>A (p.Gly876Ser)
NM_014866.2(SEC16A):c.2695C>T (p.Pro899Ser)
NM_014866.2(SEC16A):c.2698A>G (p.Ser900Gly)
NM_014866.2(SEC16A):c.26C>T (p.Pro9Leu)
NM_014866.2(SEC16A):c.2712A>T (p.Gln904His)
NM_014866.2(SEC16A):c.2732C>G (p.Ser911Cys)
NM_014866.2(SEC16A):c.2762C>G (p.Pro921Arg)
NM_014866.2(SEC16A):c.2851C>T (p.Leu951Phe)
NM_014866.2(SEC16A):c.2893G>C (p.Val965Leu)
NM_014866.2(SEC16A):c.2929G>T (p.Asp977Tyr)
NM_014866.2(SEC16A):c.3022G>A (p.Val1008Met)
NM_014866.2(SEC16A):c.307T>G (p.Ser103Ala)
NM_014866.2(SEC16A):c.3088T>G (p.Ser1030Ala)
NM_014866.2(SEC16A):c.3101C>T (p.Ala1034Val)
NM_014866.2(SEC16A):c.3142G>T (p.Ala1048Ser)
NM_014866.2(SEC16A):c.3143C>T (p.Ala1048Val)
NM_014866.2(SEC16A):c.3163G>A (p.Glu1055Lys)
NM_014866.2(SEC16A):c.3163G>C (p.Glu1055Gln)
NM_014866.2(SEC16A):c.3176A>G (p.Gln1059Arg)
NM_014866.2(SEC16A):c.3266C>T (p.Ala1089Val)
NM_014866.2(SEC16A):c.3284A>G (p.Asn1095Ser)
NM_014866.2(SEC16A):c.3323C>T (p.Ala1108Val)
NM_014866.2(SEC16A):c.3350C>G (p.Pro1117Arg)
NM_014866.2(SEC16A):c.3364G>T (p.Val1122Leu)
NM_014866.2(SEC16A):c.3443C>T (p.Ala1148Val)
NM_014866.2(SEC16A):c.3461A>G (p.Gln1154Arg)
NM_014866.2(SEC16A):c.3476A>T (p.Tyr1159Phe)
NM_014866.2(SEC16A):c.3487C>T (p.Arg1163Trp)
NM_014866.2(SEC16A):c.3488G>A (p.Arg1163Gln)
NM_014866.2(SEC16A):c.3512C>T (p.Pro1171Leu)
NM_014866.2(SEC16A):c.3556C>T (p.Leu1186Phe)
NM_014866.2(SEC16A):c.3617C>T (p.Ala1206Val)
NM_014866.2(SEC16A):c.3640C>T (p.Arg1214Cys)
NM_014866.2(SEC16A):c.3641G>A (p.Arg1214His)
NM_014866.2(SEC16A):c.3644A>G (p.Tyr1215Cys)
NM_014866.2(SEC16A):c.367C>T (p.Pro123Ser)
NM_014866.2(SEC16A):c.3734C>A (p.Ser1245Tyr)
NM_014866.2(SEC16A):c.3734C>G (p.Ser1245Cys)
NM_014866.2(SEC16A):c.3755A>C (p.Gln1252Pro)
NM_014866.2(SEC16A):c.3760G>A (p.Asp1254Asn)
NM_014866.2(SEC16A):c.3805C>A (p.Pro1269Thr)
NM_014866.2(SEC16A):c.3821G>A (p.Arg1274His)
NM_014866.2(SEC16A):c.3866G>A (p.Arg1289Gln)
NM_014866.2(SEC16A):c.3946A>G (p.Asn1316Asp)
NM_014866.2(SEC16A):c.3977G>T (p.Gly1326Val)
NM_014866.2(SEC16A):c.3993C>A (p.Asp1331Glu)
NM_014866.2(SEC16A):c.3999T>G (p.Asp1333Glu)
NM_014866.2(SEC16A):c.4013C>T (p.Pro1338Leu)
NM_014866.2(SEC16A):c.4033C>T (p.Arg1345Trp)
NM_014866.2(SEC16A):c.4034G>A (p.Arg1345Gln)
NM_014866.2(SEC16A):c.4039A>G (p.Ser1347Gly)
NM_014866.2(SEC16A):c.4051G>C (p.Glu1351Gln)
NM_014866.2(SEC16A):c.4058C>T (p.Ser1353Leu)
NM_014866.2(SEC16A):c.4064G>A (p.Arg1355Gln)
NM_014866.2(SEC16A):c.4078G>A (p.Ala1360Thr)
NM_014866.2(SEC16A):c.4081C>A (p.His1361Asn)
NM_014866.2(SEC16A):c.4100G>A (p.Arg1367His)
NM_014866.2(SEC16A):c.4100G>C (p.Arg1367Pro)
NM_014866.2(SEC16A):c.4114T>C (p.Ser1372Pro)
NM_014866.2(SEC16A):c.4132C>G (p.Gln1378Glu)
NM_014866.2(SEC16A):c.4147C>T (p.His1383Tyr)
NM_014866.2(SEC16A):c.4166C>T (p.Ser1389Phe)
NM_014866.2(SEC16A):c.4171G>A (p.Glu1391Lys)
NM_014866.2(SEC16A):c.4178C>T (p.Pro1393Leu)
NM_014866.2(SEC16A):c.4198C>G (p.His1400Asp)
NM_014866.2(SEC16A):c.4207T>C (p.Phe1403Leu)
NM_014866.2(SEC16A):c.4247C>T (p.Pro1416Leu)
NM_014866.2(SEC16A):c.4262A>G (p.Tyr1421Cys)
NM_014866.2(SEC16A):c.4270C>T (p.Pro1424Ser)
NM_014866.2(SEC16A):c.4271C>T (p.Pro1424Leu)
NM_014866.2(SEC16A):c.4282G>A (p.Val1428Ile)
NM_014866.2(SEC16A):c.4318A>G (p.Thr1440Ala)
NM_014866.2(SEC16A):c.4357A>G (p.Arg1453Gly)
NM_014866.2(SEC16A):c.4372G>A (p.Gly1458Ser)
NM_014866.2(SEC16A):c.43C>T (p.Pro15Ser)
NM_014866.2(SEC16A):c.447G>T (p.Glu149Asp)
NM_014866.2(SEC16A):c.4553A>G (p.Lys1518Arg)
NM_014866.2(SEC16A):c.4583T>C (p.Leu1528Ser)
NM_014866.2(SEC16A):c.4637G>A (p.Arg1546Lys)
NM_014866.2(SEC16A):c.4685G>A (p.Arg1562Gln)
NM_014866.2(SEC16A):c.4697C>T (p.Thr1566Ile)
NM_014866.2(SEC16A):c.46C>T (p.Pro16Ser)
NM_014866.2(SEC16A):c.4828G>C (p.Ala1610Pro)
NM_014866.2(SEC16A):c.4831G>A (p.Ala1611Thr)
NM_014866.2(SEC16A):c.4834A>G (p.Ser1612Gly)
NM_014866.2(SEC16A):c.4843G>A (p.Glu1615Lys)
NM_014866.2(SEC16A):c.4855G>C (p.Glu1619Gln)
NM_014866.2(SEC16A):c.4939C>G (p.Leu1647Val)
NM_014866.2(SEC16A):c.5065G>A (p.Ala1689Thr)
NM_014866.2(SEC16A):c.5152G>A (p.Val1718Ile)
NM_014866.2(SEC16A):c.5168T>C (p.Met1723Thr)
NM_014866.2(SEC16A):c.5197A>G (p.Arg1733Gly)
NM_014866.2(SEC16A):c.527A>G (p.His176Arg)
NM_014866.2(SEC16A):c.528T>A (p.His176Gln)
NM_014866.2(SEC16A):c.5297A>G (p.Asn1766Ser)
NM_014866.2(SEC16A):c.537G>T (p.Met179Ile)
NM_014866.2(SEC16A):c.5383G>A (p.Glu1795Lys)
NM_014866.2(SEC16A):c.53C>T (p.Ala18Val)
NM_014866.2(SEC16A):c.5460G>A (p.Thr1820=)
NM_014866.2(SEC16A):c.5491A>C (p.Lys1831Gln)
NM_014866.2(SEC16A):c.5551A>T (p.Met1851Leu)
NM_014866.2(SEC16A):c.5567G>A (p.Arg1856Gln)
NM_014866.2(SEC16A):c.5609C>G (p.Ser1870Cys)
NM_014866.2(SEC16A):c.5692G>A (p.Gly1898Arg)
NM_014866.2(SEC16A):c.5731G>A (p.Glu1911Lys)
NM_014866.2(SEC16A):c.5774C>G (p.Ala1925Gly)
NM_014866.2(SEC16A):c.580G>A (p.Gly194Ser)
NM_014866.2(SEC16A):c.5861C>T (p.Pro1954Leu)
NM_014866.2(SEC16A):c.5957G>A (p.Cys1986Tyr)
NM_014866.2(SEC16A):c.6017G>A (p.Gly2006Asp)
NM_014866.2(SEC16A):c.604C>T (p.Pro202Ser)
NM_014866.2(SEC16A):c.6097C>A (p.Pro2033Thr)
NM_014866.2(SEC16A):c.6182A>G (p.Asp2061Gly)
NM_014866.2(SEC16A):c.618G>C (p.Gln206His)
NM_014866.2(SEC16A):c.6193C>T (p.Pro2065Ser)
NM_014866.2(SEC16A):c.6248C>T (p.Ser2083Leu)
NM_014866.2(SEC16A):c.6253G>C (p.Ala2085Pro)
NM_014866.2(SEC16A):c.6259G>A (p.Glu2087Lys)
NM_014866.2(SEC16A):c.6268A>G (p.Arg2090Gly)
NM_014866.2(SEC16A):c.6304C>T (p.Pro2102Ser)
NM_014866.2(SEC16A):c.641A>G (p.Gln214Arg)
NM_014866.2(SEC16A):c.646G>C (p.Gly216Arg)
NM_014866.2(SEC16A):c.6497C>G (p.Ala2166Gly)
NM_014866.2(SEC16A):c.6497C>T (p.Ala2166Val)
NM_014866.2(SEC16A):c.6503C>T (p.Pro2168Leu)
NM_014866.2(SEC16A):c.6533C>T (p.Pro2178Leu)
NM_014866.2(SEC16A):c.6535G>A (p.Val2179Met)
NM_014866.2(SEC16A):c.656A>C (p.Gln219Pro)
NM_014866.2(SEC16A):c.6628G>A (p.Ala2210Thr)
NM_014866.2(SEC16A):c.6655G>A (p.Ala2219Thr)
NM_014866.2(SEC16A):c.6656C>G (p.Ala2219Gly)
NM_014866.2(SEC16A):c.6685G>A (p.Val2229Met)
NM_014866.2(SEC16A):c.6740G>A (p.Gly2247Glu)
NM_014866.2(SEC16A):c.6746C>T (p.Ala2249Val)
NM_014866.2(SEC16A):c.6872C>T (p.Ser2291Leu)
NM_014866.2(SEC16A):c.6874C>T (p.Arg2292Cys)
NM_014866.2(SEC16A):c.6901C>G (p.Arg2301Gly)
NM_014866.2(SEC16A):c.6902G>A (p.Arg2301His)
NM_014866.2(SEC16A):c.6910A>T (p.Ser2304Cys)
NM_014866.2(SEC16A):c.6911G>C (p.Ser2304Thr)
NM_014866.2(SEC16A):c.6937G>A (p.Asp2313Asn)
NM_014866.2(SEC16A):c.6977C>G (p.Pro2326Arg)
NM_014866.2(SEC16A):c.7025G>A (p.Ser2342Asn)
NM_014866.2(SEC16A):c.7041G>C (p.Arg2347Ser)
NM_014866.2(SEC16A):c.7067T>C (p.Leu2356Pro)
NM_014866.2(SEC16A):c.706C>G (p.Pro236Ala)
NM_014866.2(SEC16A):c.743C>T (p.Pro248Leu)
NM_014866.2(SEC16A):c.769C>T (p.His257Tyr)
NM_014866.2(SEC16A):c.812C>G (p.Pro271Arg)
NM_014866.2(SEC16A):c.821C>G (p.Ala274Gly)
NM_014866.2(SEC16A):c.87C>G (p.Ser29Arg)
NM_014866.2(SEC16A):c.922A>G (p.Ile308Val)
NM_014866.2(SEC16A):c.953G>A (p.Arg318Lys)

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