ClinVar Miner

List of variants in gene HECW2 reported as uncertain significance by Ambry Genetics

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001348768.2(HECW2):c.2135T>A (p.Val712Glu) rs575088329 0.00002
NM_001348768.2(HECW2):c.886G>C (p.Asp296His) rs776042567 0.00001
NM_001348768.2(HECW2):c.1091G>T (p.Ser364Ile) rs887985686
NM_001348768.2(HECW2):c.1181T>C (p.Ile394Thr)
NM_001348768.2(HECW2):c.151G>A (p.Asp51Asn)
NM_001348768.2(HECW2):c.1563C>G (p.His521Gln)
NM_001348768.2(HECW2):c.1625C>T (p.Pro542Leu)
NM_001348768.2(HECW2):c.1688G>A (p.Gly563Asp)
NM_001348768.2(HECW2):c.1742A>T (p.Asp581Val)
NM_001348768.2(HECW2):c.1745C>A (p.Thr582Lys) rs924461024
NM_001348768.2(HECW2):c.1826A>G (p.Gln609Arg)
NM_001348768.2(HECW2):c.1921G>A (p.Ala641Thr)
NM_001348768.2(HECW2):c.1985C>G (p.Ser662Cys)
NM_001348768.2(HECW2):c.1996G>A (p.Ala666Thr)
NM_001348768.2(HECW2):c.2026T>G (p.Ser676Ala)
NM_001348768.2(HECW2):c.2062C>T (p.Pro688Ser)
NM_001348768.2(HECW2):c.2107A>G (p.Thr703Ala)
NM_001348768.2(HECW2):c.2120T>C (p.Leu707Ser)
NM_001348768.2(HECW2):c.2216G>A (p.Arg739Gln)
NM_001348768.2(HECW2):c.221A>G (p.Gln74Arg)
NM_001348768.2(HECW2):c.2311A>C (p.Thr771Pro)
NM_001348768.2(HECW2):c.2387G>A (p.Arg796His)
NM_001348768.2(HECW2):c.2510G>A (p.Arg837Gln)
NM_001348768.2(HECW2):c.2585G>A (p.Arg862Gln) rs1553496847
NM_001348768.2(HECW2):c.2615A>C (p.Asn872Thr)
NM_001348768.2(HECW2):c.2864C>T (p.Thr955Ile)
NM_001348768.2(HECW2):c.2878G>T (p.Asp960Tyr)
NM_001348768.2(HECW2):c.3086T>C (p.Leu1029Pro)
NM_001348768.2(HECW2):c.3505G>T (p.Val1169Leu)
NM_001348768.2(HECW2):c.3704G>C (p.Gly1235Ala)
NM_001348768.2(HECW2):c.592A>G (p.Lys198Glu)
NM_001348768.2(HECW2):c.682G>C (p.Gly228Arg) rs763828119
NM_001348768.2(HECW2):c.686A>G (p.Gln229Arg) rs2105777433
NM_001348768.2(HECW2):c.887A>G (p.Asp296Gly)

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