ClinVar Miner

List of variants in gene HECW2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_001348768.2(HECW2):c.400C>T (p.Pro134Ser) rs61752169 0.00554
NM_001348768.2(HECW2):c.4554C>T (p.Asn1518=) rs17310196 0.00546
NM_001348768.2(HECW2):c.2247T>C (p.Ala749=) rs143361492 0.00525
NM_001348768.2(HECW2):c.207G>A (p.Thr69=) rs80093741 0.00366
NM_001348768.2(HECW2):c.533A>G (p.Asn178Ser) rs114024560 0.00353
NM_001348768.2(HECW2):c.4617A>T (p.Thr1539=) rs113224632 0.00345
NM_001348768.2(HECW2):c.2282G>A (p.Gly761Glu) rs61752162 0.00252
NM_001348768.2(HECW2):c.2240C>T (p.Ala747Val) rs143266673 0.00190
NM_001348768.2(HECW2):c.2220G>C (p.Arg740Ser) rs202205403 0.00096
NM_001348768.2(HECW2):c.4242T>C (p.Ile1414=) rs150787602 0.00079
NM_001348768.2(HECW2):c.1250A>G (p.Asn417Ser) rs138998510 0.00056
NM_001348768.2(HECW2):c.3084G>A (p.Ala1028=) rs142324528 0.00053
NM_001348768.2(HECW2):c.4560A>C (p.Pro1520=) rs149233137 0.00050
NM_001348768.2(HECW2):c.4181A>G (p.Asn1394Ser) rs149764323 0.00044
NM_001348768.2(HECW2):c.4260G>A (p.Gln1420=) rs61748259 0.00044
NM_020760.4(HECW2):c.3000+7C>T rs200874055 0.00041
NM_001348768.2(HECW2):c.1913T>C (p.Leu638Pro) rs143162155 0.00029
NM_001348768.2(HECW2):c.1976G>A (p.Arg659Gln) rs75909709 0.00029
NM_001348768.2(HECW2):c.3579C>T (p.Phe1193=) rs146564746 0.00021
NM_001348768.2(HECW2):c.1062C>T (p.Asp354=) rs141702751 0.00016
NM_001348768.2(HECW2):c.2434+6G>A rs376334623 0.00016
NM_001348768.2(HECW2):c.2940C>T (p.Phe980=) rs145730623 0.00010
NM_001348768.2(HECW2):c.3186C>T (p.Ser1062=) rs201294412 0.00010
NM_001348768.2(HECW2):c.1240G>C (p.Asp414His) rs764436402 0.00006
NM_001348768.2(HECW2):c.3318C>T (p.Thr1106=) rs553442127 0.00005
NM_001348768.2(HECW2):c.3678A>G (p.Leu1226=) rs555159490 0.00004
NM_001348768.2(HECW2):c.4642C>T (p.Pro1548Ser) rs145760297 0.00003
NM_001348768.2(HECW2):c.2242G>C (p.Ala748Pro) rs370869751 0.00002
NM_001348768.2(HECW2):c.807G>A (p.Lys269=) rs373557771 0.00002
NM_001348768.2(HECW2):c.1829T>C (p.Val610Ala) rs79185455 0.00001
NM_001348768.2(HECW2):c.2913C>T (p.Arg971=) rs763730628 0.00001
NM_001348768.2(HECW2):c.3949G>A (p.Ala1317Thr) rs929155541 0.00001
NM_001348768.2(HECW2):c.1086C>T (p.His362=)
NM_001348768.2(HECW2):c.1105A>G (p.Asn369Asp)
NM_001348768.2(HECW2):c.1205C>T (p.Thr402Met)
NM_001348768.2(HECW2):c.1341GAG[1] (p.Arg448del) rs562760525
NM_001348768.2(HECW2):c.1458A>T (p.Gly486=)
NM_001348768.2(HECW2):c.1465A>C (p.Ile489Leu)
NM_001348768.2(HECW2):c.151G>A (p.Asp51Asn)
NM_001348768.2(HECW2):c.1745C>A (p.Thr582Lys) rs924461024
NM_001348768.2(HECW2):c.1775G>A (p.Arg592Gln)
NM_001348768.2(HECW2):c.1775G>T (p.Arg592Leu)
NM_001348768.2(HECW2):c.1886G>A (p.Ser629Asn)
NM_001348768.2(HECW2):c.2043C>T (p.Asp681=)
NM_001348768.2(HECW2):c.2152G>A (p.Glu718Lys)
NM_001348768.2(HECW2):c.2165C>T (p.Ala722Val)
NM_001348768.2(HECW2):c.2239G>C (p.Ala747Pro) rs140320997
NM_001348768.2(HECW2):c.2251G>A (p.Glu751Lys)
NM_001348768.2(HECW2):c.2329G>A (p.Ala777Thr)
NM_001348768.2(HECW2):c.2499G>A (p.Thr833=) rs369287403
NM_001348768.2(HECW2):c.2640T>C (p.Asn880=)
NM_001348768.2(HECW2):c.2698C>T (p.Arg900Trp)
NM_001348768.2(HECW2):c.2725T>A (p.Ser909Thr)
NM_001348768.2(HECW2):c.2822A>G (p.Tyr941Cys)
NM_001348768.2(HECW2):c.2964G>A (p.Pro988=)
NM_001348768.2(HECW2):c.3075C>T (p.Pro1025=)
NM_001348768.2(HECW2):c.3129G>A (p.Ala1043=)
NM_001348768.2(HECW2):c.3138A>G (p.Val1046=)
NM_001348768.2(HECW2):c.3267A>G (p.Leu1089=)
NM_001348768.2(HECW2):c.3451C>T (p.Pro1151Ser)
NM_001348768.2(HECW2):c.3571C>T (p.Arg1191Trp) rs1575279293
NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln) rs878854416
NM_001348768.2(HECW2):c.373A>T (p.Ile125Phe)
NM_001348768.2(HECW2):c.4006C>T (p.Leu1336Phe)
NM_001348768.2(HECW2):c.40C>T (p.Arg14Cys)
NM_001348768.2(HECW2):c.4223G>C (p.Arg1408Thr)
NM_001348768.2(HECW2):c.4314A>G (p.Val1438=)
NM_001348768.2(HECW2):c.4355G>C (p.Gly1452Ala)
NM_001348768.2(HECW2):c.4435C>T (p.Arg1479Trp)
NM_001348768.2(HECW2):c.447C>T (p.Ala149=)
NM_001348768.2(HECW2):c.4590A>T (p.Lys1530Asn)
NM_001348768.2(HECW2):c.4610C>T (p.Ala1537Val)
NM_001348768.2(HECW2):c.4647C>T (p.Tyr1549=)
NM_001348768.2(HECW2):c.576T>G (p.Leu192=)
NM_001348768.2(HECW2):c.686A>G (p.Gln229Arg) rs2105777433
NM_001348768.2(HECW2):c.699T>C (p.Ser233=)
NM_001348768.2(HECW2):c.871C>G (p.Arg291Gly)
NM_001348768.2(HECW2):c.872G>A (p.Arg291Gln)
NM_001348768.2(HECW2):c.94G>T (p.Ala32Ser)

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