ClinVar Miner

List of variants in gene HECW2 reported as likely pathogenic for Inborn genetic diseases

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001348768.2(HECW2):c.3583G>C (p.Ala1195Pro) rs1553635778
NM_001348768.2(HECW2):c.3989G>A (p.Arg1330Gln) rs1553633403
NM_001348768.2(HECW2):c.4485G>T (p.Arg1495Ser) rs774316240
NM_001348768.2(HECW2):c.4514G>C (p.Ser1505Thr) rs1687461276
NM_001348768.2(HECW2):c.4714G>A (p.Glu1572Lys) rs1553629086

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