ClinVar Miner

List of variants reported as pathogenic for Dyggve-Melchior-Clausen syndrome

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Total variants: 8
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HGVS dbSNP
NM_017653.5(DYM):c.1252-1G>A rs1568119124
NM_017653.5(DYM):c.1405A>T (p.Asn469Tyr) rs120074163
NM_017653.5(DYM):c.1878del (p.Lys626fs) rs1471488189
NM_017653.5(DYM):c.396T>A (p.Tyr132Ter) rs120074162
NM_017653.5(DYM):c.422-2A>G rs1568319747
NM_017653.5(DYM):c.48C>G (p.Tyr16Ter) rs120074161
NM_017653.5(DYM):c.621-2A>G rs775414124
NM_017653.5(DYM):c.763del (p.Thr255fs) rs1568264929

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