ClinVar Miner

List of variants in gene TTC28 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_001145418.2(TTC28):c.6535C>T (p.Arg2179Cys) rs143432636 0.00179
NM_001145418.2(TTC28):c.1011C>A (p.His337Gln)
NM_001145418.2(TTC28):c.1034A>G (p.Lys345Arg)
NM_001145418.2(TTC28):c.1088T>C (p.Val363Ala)
NM_001145418.2(TTC28):c.1169A>G (p.Lys390Arg)
NM_001145418.2(TTC28):c.1211A>G (p.Tyr404Cys)
NM_001145418.2(TTC28):c.1217A>G (p.Tyr406Cys)
NM_001145418.2(TTC28):c.1220G>A (p.Arg407Gln)
NM_001145418.2(TTC28):c.1291G>C (p.Ala431Pro)
NM_001145418.2(TTC28):c.1350G>T (p.Leu450Phe)
NM_001145418.2(TTC28):c.1351G>A (p.Glu451Lys)
NM_001145418.2(TTC28):c.1408C>T (p.Arg470Trp)
NM_001145418.2(TTC28):c.1409G>A (p.Arg470Gln)
NM_001145418.2(TTC28):c.1478C>A (p.Ala493Glu)
NM_001145418.2(TTC28):c.1493A>G (p.Lys498Arg)
NM_001145418.2(TTC28):c.14C>T (p.Pro5Leu)
NM_001145418.2(TTC28):c.1507A>G (p.Ile503Val)
NM_001145418.2(TTC28):c.152C>T (p.Pro51Leu)
NM_001145418.2(TTC28):c.1539G>C (p.Gln513His)
NM_001145418.2(TTC28):c.1544G>A (p.Arg515His)
NM_001145418.2(TTC28):c.157C>A (p.Leu53Met)
NM_001145418.2(TTC28):c.1615C>G (p.Gln539Glu)
NM_001145418.2(TTC28):c.1648C>T (p.Arg550Cys)
NM_001145418.2(TTC28):c.1670A>G (p.His557Arg)
NM_001145418.2(TTC28):c.1699C>G (p.Leu567Val)
NM_001145418.2(TTC28):c.1715G>A (p.Arg572Gln)
NM_001145418.2(TTC28):c.1844C>G (p.Pro615Arg)
NM_001145418.2(TTC28):c.1852G>C (p.Glu618Gln)
NM_001145418.2(TTC28):c.1864C>T (p.Arg622Trp)
NM_001145418.2(TTC28):c.1876G>A (p.Asp626Asn)
NM_001145418.2(TTC28):c.1928C>T (p.Ala643Val)
NM_001145418.2(TTC28):c.1999C>G (p.Leu667Val)
NM_001145418.2(TTC28):c.214G>A (p.Gly72Arg)
NM_001145418.2(TTC28):c.2150T>A (p.Leu717Gln)
NM_001145418.2(TTC28):c.2208C>A (p.Phe736Leu)
NM_001145418.2(TTC28):c.2233C>T (p.His745Tyr)
NM_001145418.2(TTC28):c.2306A>G (p.Lys769Arg)
NM_001145418.2(TTC28):c.2337G>C (p.Gln779His)
NM_001145418.2(TTC28):c.235G>A (p.Val79Ile)
NM_001145418.2(TTC28):c.2375G>C (p.Gly792Ala)
NM_001145418.2(TTC28):c.2390A>C (p.His797Pro)
NM_001145418.2(TTC28):c.2392G>C (p.Gly798Arg)
NM_001145418.2(TTC28):c.2407G>A (p.Val803Ile)
NM_001145418.2(TTC28):c.2413A>C (p.Met805Leu)
NM_001145418.2(TTC28):c.2462T>G (p.Leu821Arg)
NM_001145418.2(TTC28):c.2465A>G (p.Asp822Gly)
NM_001145418.2(TTC28):c.2494C>G (p.Leu832Val)
NM_001145418.2(TTC28):c.2518A>G (p.Met840Val)
NM_001145418.2(TTC28):c.2549T>C (p.Met850Thr)
NM_001145418.2(TTC28):c.259G>A (p.Val87Ile)
NM_001145418.2(TTC28):c.2623G>C (p.Asp875His)
NM_001145418.2(TTC28):c.2628G>C (p.Arg876Ser)
NM_001145418.2(TTC28):c.262G>A (p.Asp88Asn)
NM_001145418.2(TTC28):c.2630G>T (p.Gly877Val)
NM_001145418.2(TTC28):c.2639A>G (p.Tyr880Cys)
NM_001145418.2(TTC28):c.2699A>G (p.Tyr900Cys)
NM_001145418.2(TTC28):c.2707T>C (p.Tyr903His)
NM_001145418.2(TTC28):c.2761C>T (p.Arg921Trp)
NM_001145418.2(TTC28):c.2842C>T (p.His948Tyr)
NM_001145418.2(TTC28):c.2864A>G (p.Asn955Ser)
NM_001145418.2(TTC28):c.286A>G (p.Ser96Gly)
NM_001145418.2(TTC28):c.290A>G (p.Asn97Ser)
NM_001145418.2(TTC28):c.2917T>C (p.Tyr973His)
NM_001145418.2(TTC28):c.2956A>G (p.Ile986Val)
NM_001145418.2(TTC28):c.3005G>A (p.Gly1002Asp)
NM_001145418.2(TTC28):c.3016G>A (p.Val1006Ile)
NM_001145418.2(TTC28):c.3034G>A (p.Glu1012Lys)
NM_001145418.2(TTC28):c.305A>G (p.Tyr102Cys)
NM_001145418.2(TTC28):c.3133C>A (p.Leu1045Met)
NM_001145418.2(TTC28):c.3149T>A (p.Leu1050Gln)
NM_001145418.2(TTC28):c.3214G>A (p.Asp1072Asn)
NM_001145418.2(TTC28):c.3223G>T (p.Ala1075Ser)
NM_001145418.2(TTC28):c.3227A>C (p.Lys1076Thr)
NM_001145418.2(TTC28):c.3245G>T (p.Ser1082Ile)
NM_001145418.2(TTC28):c.3331G>A (p.Gly1111Ser)
NM_001145418.2(TTC28):c.3335G>A (p.Arg1112Gln)
NM_001145418.2(TTC28):c.3362A>G (p.His1121Arg)
NM_001145418.2(TTC28):c.3403G>A (p.Glu1135Lys)
NM_001145418.2(TTC28):c.358C>T (p.Leu120Phe)
NM_001145418.2(TTC28):c.3613G>A (p.Val1205Met)
NM_001145418.2(TTC28):c.3799G>A (p.Glu1267Lys)
NM_001145418.2(TTC28):c.3821G>C (p.Ser1274Thr)
NM_001145418.2(TTC28):c.3898C>T (p.Arg1300Trp)
NM_001145418.2(TTC28):c.3899G>A (p.Arg1300Gln)
NM_001145418.2(TTC28):c.392G>A (p.Arg131Gln)
NM_001145418.2(TTC28):c.3950A>T (p.Glu1317Val)
NM_001145418.2(TTC28):c.3994G>A (p.Glu1332Lys)
NM_001145418.2(TTC28):c.4016C>T (p.Ser1339Leu)
NM_001145418.2(TTC28):c.4031C>T (p.Thr1344Ile)
NM_001145418.2(TTC28):c.4039C>G (p.Leu1347Val)
NM_001145418.2(TTC28):c.4042C>T (p.Arg1348Trp)
NM_001145418.2(TTC28):c.4051C>T (p.Arg1351Cys)
NM_001145418.2(TTC28):c.4054C>T (p.Arg1352Cys)
NM_001145418.2(TTC28):c.4057A>C (p.Asn1353His)
NM_001145418.2(TTC28):c.4091C>T (p.Thr1364Met)
NM_001145418.2(TTC28):c.4118C>T (p.Pro1373Leu)
NM_001145418.2(TTC28):c.4129G>A (p.Gly1377Arg)
NM_001145418.2(TTC28):c.4172C>T (p.Pro1391Leu)
NM_001145418.2(TTC28):c.4181G>A (p.Arg1394His)
NM_001145418.2(TTC28):c.4204G>A (p.Ala1402Thr)
NM_001145418.2(TTC28):c.422G>A (p.Arg141His)
NM_001145418.2(TTC28):c.4237G>A (p.Gly1413Ser)
NM_001145418.2(TTC28):c.4250G>A (p.Arg1417Gln)
NM_001145418.2(TTC28):c.4256G>A (p.Arg1419Gln)
NM_001145418.2(TTC28):c.4279G>T (p.Gly1427Trp)
NM_001145418.2(TTC28):c.4291C>G (p.Leu1431Val)
NM_001145418.2(TTC28):c.4295T>C (p.Ile1432Thr)
NM_001145418.2(TTC28):c.4324T>G (p.Ser1442Ala)
NM_001145418.2(TTC28):c.4375C>G (p.Arg1459Gly)
NM_001145418.2(TTC28):c.4375C>T (p.Arg1459Cys)
NM_001145418.2(TTC28):c.4408C>T (p.Arg1470Trp)
NM_001145418.2(TTC28):c.4409G>A (p.Arg1470Gln)
NM_001145418.2(TTC28):c.4429T>G (p.Ser1477Ala)
NM_001145418.2(TTC28):c.4445T>C (p.Met1482Thr)
NM_001145418.2(TTC28):c.4448C>T (p.Ala1483Val)
NM_001145418.2(TTC28):c.4458C>G (p.Ile1486Met)
NM_001145418.2(TTC28):c.4459G>A (p.Gly1487Ser)
NM_001145418.2(TTC28):c.44C>T (p.Pro15Leu)
NM_001145418.2(TTC28):c.4508C>T (p.Pro1503Leu)
NM_001145418.2(TTC28):c.452C>T (p.Ser151Phe)
NM_001145418.2(TTC28):c.4546G>A (p.Glu1516Lys)
NM_001145418.2(TTC28):c.4582G>A (p.Ala1528Thr)
NM_001145418.2(TTC28):c.4646T>A (p.Ile1549Asn)
NM_001145418.2(TTC28):c.469C>T (p.Pro157Ser)
NM_001145418.2(TTC28):c.4751G>A (p.Arg1584Gln)
NM_001145418.2(TTC28):c.4816C>T (p.Leu1606Phe)
NM_001145418.2(TTC28):c.4850C>T (p.Pro1617Leu)
NM_001145418.2(TTC28):c.4948G>A (p.Ala1650Thr)
NM_001145418.2(TTC28):c.5035G>A (p.Gly1679Ser)
NM_001145418.2(TTC28):c.5105C>T (p.Pro1702Leu)
NM_001145418.2(TTC28):c.5158C>A (p.Pro1720Thr)
NM_001145418.2(TTC28):c.5188G>C (p.Glu1730Gln)
NM_001145418.2(TTC28):c.5210G>A (p.Arg1737His)
NM_001145418.2(TTC28):c.5228G>A (p.Arg1743Gln)
NM_001145418.2(TTC28):c.5240A>G (p.His1747Arg)
NM_001145418.2(TTC28):c.5282G>A (p.Arg1761His)
NM_001145418.2(TTC28):c.5318A>G (p.Asn1773Ser)
NM_001145418.2(TTC28):c.5326G>A (p.Gly1776Ser)
NM_001145418.2(TTC28):c.5329G>A (p.Gly1777Ser)
NM_001145418.2(TTC28):c.5377G>C (p.Asp1793His)
NM_001145418.2(TTC28):c.5425G>A (p.Asp1809Asn)
NM_001145418.2(TTC28):c.5429C>T (p.Pro1810Leu)
NM_001145418.2(TTC28):c.5531C>G (p.Thr1844Arg)
NM_001145418.2(TTC28):c.5536G>A (p.Glu1846Lys)
NM_001145418.2(TTC28):c.5552G>A (p.Arg1851Gln)
NM_001145418.2(TTC28):c.5605G>T (p.Ala1869Ser)
NM_001145418.2(TTC28):c.5659G>A (p.Val1887Ile)
NM_001145418.2(TTC28):c.5694C>G (p.Phe1898Leu)
NM_001145418.2(TTC28):c.5719T>C (p.Cys1907Arg)
NM_001145418.2(TTC28):c.5726T>C (p.Val1909Ala)
NM_001145418.2(TTC28):c.5744T>G (p.Ile1915Ser)
NM_001145418.2(TTC28):c.5771G>A (p.Arg1924Gln)
NM_001145418.2(TTC28):c.5773C>T (p.Arg1925Trp)
NM_001145418.2(TTC28):c.5788G>A (p.Ala1930Thr)
NM_001145418.2(TTC28):c.5941G>A (p.Gly1981Ser)
NM_001145418.2(TTC28):c.5945C>T (p.Ala1982Val)
NM_001145418.2(TTC28):c.5952C>A (p.Ser1984Arg)
NM_001145418.2(TTC28):c.5966C>T (p.Ala1989Val)
NM_001145418.2(TTC28):c.6058C>T (p.Arg2020Trp)
NM_001145418.2(TTC28):c.6066C>A (p.Asp2022Glu)
NM_001145418.2(TTC28):c.6074G>C (p.Arg2025Pro)
NM_001145418.2(TTC28):c.6134C>G (p.Thr2045Ser)
NM_001145418.2(TTC28):c.6160G>A (p.Glu2054Lys)
NM_001145418.2(TTC28):c.6260C>A (p.Pro2087His)
NM_001145418.2(TTC28):c.631C>T (p.His211Tyr)
NM_001145418.2(TTC28):c.6410A>G (p.Asp2137Gly)
NM_001145418.2(TTC28):c.6439G>A (p.Val2147Met)
NM_001145418.2(TTC28):c.6527C>A (p.Ala2176Glu)
NM_001145418.2(TTC28):c.6559G>A (p.Val2187Met)
NM_001145418.2(TTC28):c.6559G>T (p.Val2187Leu)
NM_001145418.2(TTC28):c.6586G>A (p.Gly2196Ser)
NM_001145418.2(TTC28):c.6667A>G (p.Lys2223Glu)
NM_001145418.2(TTC28):c.6703C>A (p.Pro2235Thr)
NM_001145418.2(TTC28):c.6805C>T (p.Arg2269Trp)
NM_001145418.2(TTC28):c.6817G>A (p.Gly2273Ser)
NM_001145418.2(TTC28):c.6875G>A (p.Ser2292Asn)
NM_001145418.2(TTC28):c.6931G>A (p.Gly2311Ser)
NM_001145418.2(TTC28):c.6938A>C (p.Gln2313Pro)
NM_001145418.2(TTC28):c.6940T>C (p.Ser2314Pro)
NM_001145418.2(TTC28):c.6994G>A (p.Ala2332Thr)
NM_001145418.2(TTC28):c.6998G>C (p.Arg2333Pro)
NM_001145418.2(TTC28):c.7031A>C (p.Lys2344Thr)
NM_001145418.2(TTC28):c.7031A>G (p.Lys2344Arg)
NM_001145418.2(TTC28):c.7123A>G (p.Met2375Val)
NM_001145418.2(TTC28):c.7131C>G (p.Ile2377Met)
NM_001145418.2(TTC28):c.7135C>G (p.Arg2379Gly)
NM_001145418.2(TTC28):c.7135C>T (p.Arg2379Trp)
NM_001145418.2(TTC28):c.7319C>T (p.Ser2440Leu)
NM_001145418.2(TTC28):c.7343C>T (p.Ala2448Val)
NM_001145418.2(TTC28):c.7361C>T (p.Ala2454Val)
NM_001145418.2(TTC28):c.777G>C (p.Gln259His)
NM_001145418.2(TTC28):c.784G>C (p.Asp262His)
NM_001145418.2(TTC28):c.866A>G (p.Asn289Ser)
NM_001145418.2(TTC28):c.935C>T (p.Ala312Val)
NM_001145418.2(TTC28):c.995A>G (p.Asn332Ser)

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