ClinVar Miner

List of variants in gene HECW2 studied for neurodevelopmental disorder

Included ClinVar conditions (779):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001348768.2(HECW2):c.3444G>A (p.Ser1148=) rs4850690 0.97069
NM_001348768.2(HECW2):c.1293G>A (p.Pro431=) rs1531111 0.71305
NM_001348768.2(HECW2):c.2435-7C>T rs2305567 0.69958
NM_001348768.2(HECW2):c.2814+37G>A rs4241189 0.69949
NM_001348768.2(HECW2):c.*37G>T rs3820908 0.67009
NM_001348768.2(HECW2):c.2814+29G>A rs12468199 0.52652
NM_001348768.2(HECW2):c.400+15G>A rs6757981 0.09405
NM_001348768.2(HECW2):c.996A>G (p.Pro332=) rs10172730 0.01037
NM_001348768.2(HECW2):c.4181A>G (p.Asn1394Ser) rs149764323 0.00044
NM_020760.4(HECW2):c.3238+9T>C rs201438025 0.00008
NM_001348768.2(HECW2):c.-35-1G>A rs755596278 0.00003
NM_001348768.2(HECW2):c.4642C>T (p.Pro1548Ser) rs145760297 0.00003
NM_001348768.2(HECW2):c.473C>T (p.Thr158Ile) rs535521195 0.00003
NM_001348768.2(HECW2):c.2242G>C (p.Ala748Pro) rs370869751 0.00002
NM_001348768.2(HECW2):c.1072C>T (p.Pro358Ser) rs1194444336 0.00001
NM_001348768.2(HECW2):c.1093C>G (p.Gln365Glu) rs1219315180 0.00001
NM_001348768.2(HECW2):c.2261C>T (p.Pro754Leu) rs1691794356 0.00001
NM_001348768.2(HECW2):c.2741C>T (p.Thr914Met) rs375518920 0.00001
NM_001348768.2(HECW2):c.2896C>T (p.Arg966Cys) rs750085441 0.00001
NM_001348768.2(HECW2):c.4436G>A (p.Arg1479Gln) rs143511416 0.00001
NM_001348768.2(HECW2):c.452G>A (p.Arg151Gln) rs752395684 0.00001
NM_001348768.2(HECW2):c.-35-72257T>G rs2125408449
NM_001348768.2(HECW2):c.1016T>C (p.Leu339Pro)
NM_001348768.2(HECW2):c.1091G>T (p.Ser364Ile) rs887985686
NM_001348768.2(HECW2):c.1166G>A (p.Ser389Asn) rs1691867456
NM_001348768.2(HECW2):c.1451A>T (p.Glu484Val)
NM_001348768.2(HECW2):c.1462C>G (p.Leu488Val)
NM_001348768.2(HECW2):c.1511C>A (p.Ser504Tyr)
NM_001348768.2(HECW2):c.1522C>G (p.Leu508Val)
NM_001348768.2(HECW2):c.1532A>G (p.Asn511Ser)
NM_001348768.2(HECW2):c.1648G>C (p.Gly550Arg)
NM_001348768.2(HECW2):c.1655G>A (p.Gly552Asp)
NM_001348768.2(HECW2):c.1685A>G (p.Gln562Arg)
NM_001348768.2(HECW2):c.1772G>A (p.Ser591Asn)
NM_001348768.2(HECW2):c.1793C>T (p.Thr598Ile)
NM_001348768.2(HECW2):c.1855C>G (p.Pro619Ala) rs1691824906
NM_001348768.2(HECW2):c.1892G>A (p.Arg631Lys) rs1691823002
NM_001348768.2(HECW2):c.1967T>C (p.Val656Ala) rs1691819546
NM_001348768.2(HECW2):c.1979G>A (p.Cys660Tyr)
NM_001348768.2(HECW2):c.201G>C (p.Glu67Asp)
NM_001348768.2(HECW2):c.2024C>G (p.Ser675Cys)
NM_001348768.2(HECW2):c.2059G>A (p.Glu687Lys) rs762015382
NM_001348768.2(HECW2):c.2167G>C (p.Glu723Gln) rs1559036568
NM_001348768.2(HECW2):c.2230G>A (p.Glu744Lys) rs772889074
NM_001348768.2(HECW2):c.2294G>A (p.Gly765Asp)
NM_001348768.2(HECW2):c.2311A>G (p.Thr771Ala)
NM_001348768.2(HECW2):c.2416G>A (p.Asp806Asn)
NM_001348768.2(HECW2):c.2587T>C (p.Tyr863His) rs1691301206
NM_001348768.2(HECW2):c.2792T>A (p.Phe931Tyr)
NM_001348768.2(HECW2):c.2818G>A (p.Ala940Thr) rs1690650843
NM_001348768.2(HECW2):c.2824C>T (p.Arg942Cys)
NM_001348768.2(HECW2):c.2846G>C (p.Cys949Ser) rs1690649009
NM_001348768.2(HECW2):c.2990A>G (p.His997Arg)
NM_001348768.2(HECW2):c.3083C>T (p.Ala1028Val)
NM_001348768.2(HECW2):c.3152G>A (p.Arg1051Gln)
NM_001348768.2(HECW2):c.3175C>T (p.Pro1059Ser) rs372804977
NM_001348768.2(HECW2):c.3235G>A (p.Val1079Met) rs1309031283
NM_001348768.2(HECW2):c.3288A>T (p.Glu1096Asp)
NM_001348768.2(HECW2):c.3355C>T (p.Arg1119Ter)
NM_001348768.2(HECW2):c.3371C>A (p.Pro1124Gln)
NM_001348768.2(HECW2):c.3454C>G (p.Pro1152Ala)
NM_001348768.2(HECW2):c.3542C>G (p.Ala1181Gly) rs1688481563
NM_001348768.2(HECW2):c.3556C>T (p.Pro1186Ser)
NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln) rs878854416
NM_001348768.2(HECW2):c.3577T>G (p.Phe1193Val) rs878854422
NM_001348768.2(HECW2):c.3587A>G (p.Lys1196Arg) rs1688479620
NM_001348768.2(HECW2):c.358C>A (p.Gln120Lys)
NM_001348768.2(HECW2):c.3597C>A (p.Asn1199Lys) rs1688479407
NM_001348768.2(HECW2):c.3829T>C (p.Tyr1277His) rs1575255333
NM_001348768.2(HECW2):c.3980T>C (p.Phe1327Ser) rs1687828601
NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp) rs878854417
NM_001348768.2(HECW2):c.3998A>G (p.Tyr1333Cys)
NM_001348768.2(HECW2):c.4016+1G>A
NM_001348768.2(HECW2):c.4017-2A>G
NM_001348768.2(HECW2):c.412A>G (p.Ile138Val) rs1692479893
NM_001348768.2(HECW2):c.4280G>A (p.Arg1427His)
NM_001348768.2(HECW2):c.4321T>C (p.Phe1441Leu) rs1575240506
NM_001348768.2(HECW2):c.4323T>G (p.Phe1441Leu) rs1687614121
NM_001348768.2(HECW2):c.4331G>C (p.Arg1444Thr) rs1687613913
NM_001348768.2(HECW2):c.4333G>C (p.Glu1445Gln) rs1687613797
NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly) rs878854424
NM_001348768.2(HECW2):c.4343T>C (p.Leu1448Ser) rs1575240464
NM_001348768.2(HECW2):c.4343T>G (p.Leu1448Trp) rs1575240464
NM_001348768.2(HECW2):c.4355G>T (p.Gly1452Val) rs1027776486
NM_001348768.2(HECW2):c.4471G>C (p.Glu1491Gln) rs1575235801
NM_001348768.2(HECW2):c.4507A>G (p.Thr1503Ala) rs1687461840
NM_001348768.2(HECW2):c.4510T>G (p.Ser1504Ala)
NM_001348768.2(HECW2):c.4511C>A (p.Ser1504Tyr) rs1687461391
NM_001348768.2(HECW2):c.4550G>A (p.Ser1517Asn) rs1353654549
NM_001348768.2(HECW2):c.4706T>C (p.Phe1569Ser) rs1686848876
NM_001348768.2(HECW2):c.643C>T (p.Pro215Ser)
NM_001348768.2(HECW2):c.736C>T (p.Arg246Ter) rs1383783174
NM_001348768.2(HECW2):c.811C>T (p.Arg271Cys)
NM_001348768.2(HECW2):c.82C>T (p.Leu28Phe)
NM_001348768.2(HECW2):c.860G>C (p.Arg287Thr)
NM_001348768.2(HECW2):c.872G>A (p.Arg291Gln)
NM_001348768.2(HECW2):c.951G>T (p.Gln317His) rs1324148127
NM_001348768.2(HECW2):c.983A>C (p.Glu328Ala)

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.