ClinVar Miner

List of variants in gene HECW2 reported as uncertain significance by GeneDx

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001348768.2(HECW2):c.1069A>G (p.Met357Val) rs780893136 0.00003
NM_001348768.2(HECW2):c.2278G>A (p.Ala760Thr) rs1481288680 0.00001
NM_001348768.2(HECW2):c.3137T>C (p.Val1046Ala) rs1689850895 0.00001
NM_001348768.2(HECW2):c.3355C>T (p.Arg1119Ter) rs1689126878 0.00001
NM_001348768.2(HECW2):c.3401A>G (p.Asp1134Gly) rs111318218 0.00001
NM_001348768.2(HECW2):c.3700A>G (p.Met1234Val) rs1184532967 0.00001
NM_001348768.2(HECW2):c.3949G>A (p.Ala1317Thr) rs929155541 0.00001
NM_001348768.2(HECW2):c.1021G>T (p.Val341Phe) rs1483745015
NM_001348768.2(HECW2):c.1042T>A (p.Leu348Ile) rs2105760211
NM_001348768.2(HECW2):c.1098G>A (p.Val366=) rs1295705212
NM_001348768.2(HECW2):c.1127G>A (p.Ser376Asn)
NM_001348768.2(HECW2):c.1156T>C (p.Phe386Leu) rs2105759581
NM_001348768.2(HECW2):c.1385A>T (p.His462Leu)
NM_001348768.2(HECW2):c.157G>A (p.Val53Met)
NM_001348768.2(HECW2):c.1774C>T (p.Arg592Ter) rs1553499468
NM_001348768.2(HECW2):c.1870A>G (p.Ser624Gly) rs2105755743
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) rs1241394413
NM_001348768.2(HECW2):c.1990G>C (p.Glu664Gln) rs2469041901
NM_001348768.2(HECW2):c.2004T>A (p.Phe668Leu) rs1691817545
NM_001348768.2(HECW2):c.2031GGA[1] (p.Glu679_Glu680del) rs1429088175
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.2308dup (p.Ala770fs) rs2105752980
NM_001348768.2(HECW2):c.2344C>T (p.Gln782Ter) rs1691739034
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) rs767738195
NM_001348768.2(HECW2):c.2689+1G>T
NM_001348768.2(HECW2):c.2694C>A (p.Phe898Leu) rs1691274480
NM_001348768.2(HECW2):c.2723C>T (p.Thr908Ile) rs1229703288
NM_001348768.2(HECW2):c.2763del (p.Pro921_Val922insTer) rs2468984538
NM_001348768.2(HECW2):c.2818G>A (p.Ala940Thr) rs1690650843
NM_001348768.2(HECW2):c.2878G>T (p.Asp960Tyr) rs2468925488
NM_001348768.2(HECW2):c.2923G>A (p.Gly975Arg) rs2468925219
NM_001348768.2(HECW2):c.2926T>C (p.Phe976Leu) rs2468925189
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.3130G>A (p.Gly1044Ser)
NM_001348768.2(HECW2):c.3164C>T (p.Pro1055Leu) rs2468846178
NM_001348768.2(HECW2):c.3203T>C (p.Val1068Ala) rs2468845893
NM_001348768.2(HECW2):c.3438_3440del (p.Ile1146del)
NM_001348768.2(HECW2):c.3529G>C (p.Gly1177Arg) rs2468748167
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.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.431A>G (p.His144Arg)
NM_001348768.2(HECW2):c.434G>C (p.Gly145Ala) rs868242958
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.4651T>G (p.Ser1551Ala)
NM_001348768.2(HECW2):c.475G>C (p.Val159Leu) rs185418720
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) rs2469073406
NM_001348768.2(HECW2):c.695G>A (p.Arg232Gln) rs1312662530
NM_001348768.2(HECW2):c.748T>G (p.Ser250Ala)
NM_001348768.2(HECW2):c.797A>C (p.Lys266Thr) rs2469062829
NM_001348768.2(HECW2):c.895C>T (p.Leu299Phe) rs1034417031
NM_001348768.2(HECW2):c.896T>C (p.Leu299Pro) rs2469053997

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