ClinVar Miner

List of variants in gene HECW2 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 108
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001348768.2(HECW2):c.1069A>G (p.Met357Val) rs780893136 0.00003
NM_001348768.2(HECW2):c.2242G>C (p.Ala748Pro) rs370869751 0.00002
NM_001348768.2(HECW2):c.1829T>C (p.Val610Ala) rs79185455 0.00001
NM_001348768.2(HECW2):c.2812C>T (p.Pro938Ser) rs1033374992 0.00001
NM_001348768.2(HECW2):c.3137T>C (p.Val1046Ala) rs1689850895 0.00001
NM_001348768.2(HECW2):c.3401A>G (p.Asp1134Gly) rs111318218 0.00001
NM_001348768.2(HECW2):c.3949G>A (p.Ala1317Thr) rs929155541 0.00001
NM_001348768.2(HECW2):c.700A>G (p.Thr234Ala) rs1057520120 0.00001
GRCh37/hg19 2q32.3(chr2:197146896-197176170)x3
NM_001348768.2(HECW2):c.1018G>A (p.Gly340Arg)
NM_001348768.2(HECW2):c.1021G>T (p.Val341Phe)
NM_001348768.2(HECW2):c.1042T>A (p.Leu348Ile) rs2105760211
NM_001348768.2(HECW2):c.1098G>A (p.Val366=)
NM_001348768.2(HECW2):c.1127G>A (p.Ser376Asn)
NM_001348768.2(HECW2):c.1156T>C (p.Phe386Leu)
NM_001348768.2(HECW2):c.1304C>A (p.Thr435Asn)
NM_001348768.2(HECW2):c.1337_1338del (p.Lys446fs)
NM_001348768.2(HECW2):c.1385A>T (p.His462Leu)
NM_001348768.2(HECW2):c.151G>A (p.Asp51Asn)
NM_001348768.2(HECW2):c.157G>A (p.Val53Met)
NM_001348768.2(HECW2):c.1706G>T (p.Gly569Val) rs1691836567
NM_001348768.2(HECW2):c.1745C>A (p.Thr582Lys) rs924461024
NM_001348768.2(HECW2):c.1774C>T (p.Arg592Ter) rs1553499468
NM_001348768.2(HECW2):c.1775G>A (p.Arg592Gln)
NM_001348768.2(HECW2):c.1870A>G (p.Ser624Gly) rs2105755743
NM_001348768.2(HECW2):c.1886G>A (p.Ser629Asn)
NM_001348768.2(HECW2):c.1887C>G (p.Ser629Arg) rs1057518434
NM_001348768.2(HECW2):c.1889C>A (p.Thr630Asn) rs1248854804
NM_001348768.2(HECW2):c.1931C>T (p.Ser644Phe)
NM_001348768.2(HECW2):c.1990G>C (p.Glu664Gln)
NM_001348768.2(HECW2):c.2004T>A (p.Phe668Leu) rs1691817545
NM_001348768.2(HECW2):c.2031GGA[1] (p.Glu679_Glu680del)
NM_001348768.2(HECW2):c.206C>T (p.Thr69Met)
NM_001348768.2(HECW2):c.2106C>A (p.Cys702Ter) rs1691807279
NM_001348768.2(HECW2):c.2123C>T (p.Pro708Leu)
NM_001348768.2(HECW2):c.2167G>C (p.Glu723Gln) rs1559036568
NM_001348768.2(HECW2):c.2278G>A (p.Ala760Thr)
NM_001348768.2(HECW2):c.2308dup (p.Ala770fs) rs2105752980
NM_001348768.2(HECW2):c.2344C>T (p.Gln782Ter)
NM_001348768.2(HECW2):c.2409G>C (p.Gln803His)
NM_001348768.2(HECW2):c.2436C>A (p.Asn812Lys) rs1453566548
NM_001348768.2(HECW2):c.2498C>T (p.Thr833Met)
NM_001348768.2(HECW2):c.2626G>A (p.Glu876Lys)
NM_001348768.2(HECW2):c.2687C>T (p.Ala896Val)
NM_001348768.2(HECW2):c.2689+1G>T
NM_001348768.2(HECW2):c.2694C>A (p.Phe898Leu) rs1691274480
NM_001348768.2(HECW2):c.2698C>T (p.Arg900Trp)
NM_001348768.2(HECW2):c.2723C>T (p.Thr908Ile)
NM_001348768.2(HECW2):c.2725T>A (p.Ser909Thr)
NM_001348768.2(HECW2):c.2735G>C (p.Arg912Thr)
NM_001348768.2(HECW2):c.2763del (p.Pro921_Val922insTer)
NM_001348768.2(HECW2):c.2818G>A (p.Ala940Thr) rs1690650843
NM_001348768.2(HECW2):c.2878G>T (p.Asp960Tyr)
NM_001348768.2(HECW2):c.2923G>A (p.Gly975Arg)
NM_001348768.2(HECW2):c.2926T>C (p.Phe976Leu)
NM_001348768.2(HECW2):c.2933A>G (p.Asn978Ser)
NM_001348768.2(HECW2):c.2951A>G (p.Gln984Arg) rs756756913
NM_001348768.2(HECW2):c.3041T>C (p.Ile1014Thr) rs1690068658
NM_001348768.2(HECW2):c.3129G>A (p.Ala1043=)
NM_001348768.2(HECW2):c.3130G>A (p.Gly1044Ser)
NM_001348768.2(HECW2):c.3164C>T (p.Pro1055Leu)
NM_001348768.2(HECW2):c.3203T>C (p.Val1068Ala)
NM_001348768.2(HECW2):c.3302G>A (p.Arg1101His)
NM_001348768.2(HECW2):c.3355C>T (p.Arg1119Ter)
NM_001348768.2(HECW2):c.3438_3440del (p.Ile1146del)
NM_001348768.2(HECW2):c.3451C>T (p.Pro1151Ser)
NM_001348768.2(HECW2):c.3529G>C (p.Gly1177Arg)
NM_001348768.2(HECW2):c.3566A>G (p.Tyr1189Cys)
NM_001348768.2(HECW2):c.3568A>G (p.Lys1190Glu) rs2105884016
NM_001348768.2(HECW2):c.3584C>G (p.Ala1195Gly) rs2105883939
NM_001348768.2(HECW2):c.3615G>T (p.Glu1205Asp)
NM_001348768.2(HECW2):c.3683A>G (p.Asp1228Gly) rs2105878957
NM_001348768.2(HECW2):c.3694C>A (p.Gln1232Lys) rs1237939459
NM_001348768.2(HECW2):c.3700A>G (p.Met1234Val)
NM_001348768.2(HECW2):c.373A>T (p.Ile125Phe)
NM_001348768.2(HECW2):c.3823A>G (p.Asn1275Asp)
NM_001348768.2(HECW2):c.3896T>A (p.Phe1299Tyr)
NM_001348768.2(HECW2):c.3939C>G (p.Ile1313Met) rs2105832451
NM_001348768.2(HECW2):c.3941T>A (p.Leu1314His)
NM_001348768.2(HECW2):c.3956T>C (p.Ile1319Thr)
NM_001348768.2(HECW2):c.4006C>T (p.Leu1336Phe)
NM_001348768.2(HECW2):c.40C>T (p.Arg14Cys)
NM_001348768.2(HECW2):c.4129G>A (p.Glu1377Lys)
NM_001348768.2(HECW2):c.4186C>A (p.Pro1396Thr)
NM_001348768.2(HECW2):c.431A>G (p.His144Arg)
NM_001348768.2(HECW2):c.434G>C (p.Gly145Ala)
NM_001348768.2(HECW2):c.4358C>T (p.Thr1453Ile) rs749910927
NM_001348768.2(HECW2):c.4391A>G (p.Asn1464Ser)
NM_001348768.2(HECW2):c.43C>T (p.Arg15Ter)
NM_001348768.2(HECW2):c.4406G>T (p.Gly1469Val)
NM_001348768.2(HECW2):c.445G>A (p.Ala149Thr)
NM_001348768.2(HECW2):c.4486T>G (p.Leu1496Val)
NM_001348768.2(HECW2):c.4590A>T (p.Lys1530Asn)
NM_001348768.2(HECW2):c.4651T>G (p.Ser1551Ala)
NM_001348768.2(HECW2):c.475G>C (p.Val159Leu)
NM_001348768.2(HECW2):c.51C>T (p.Pro17=) rs2125272542
NM_001348768.2(HECW2):c.553G>T (p.Val185Phe)
NM_001348768.2(HECW2):c.606dup (p.Phe203fs)
NM_001348768.2(HECW2):c.637A>T (p.Ile213Phe)
NM_001348768.2(HECW2):c.640C>T (p.Gln214Ter)
NM_001348768.2(HECW2):c.686A>G (p.Gln229Arg) rs2105777433
NM_001348768.2(HECW2):c.695G>A (p.Arg232Gln)
NM_001348768.2(HECW2):c.748T>G (p.Ser250Ala)
NM_001348768.2(HECW2):c.797A>C (p.Lys266Thr)
NM_001348768.2(HECW2):c.871C>G (p.Arg291Gly)
NM_001348768.2(HECW2):c.895C>T (p.Leu299Phe)
NM_001348768.2(HECW2):c.896T>C (p.Leu299Pro)
NM_001348768.2(HECW2):c.94G>T (p.Ala32Ser)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.