ClinVar Miner

List of variants studied for Dyggve-Melchior-Clausen disease by OMIM

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP
NM_017653.3(DYM):c.396T>A (p.Tyr132Ter) rs120074162
NM_017653.4(DYM):c.1252-1G>A
NM_017653.4(DYM):c.1405A>T (p.Asn469Tyr) rs120074163
NM_017653.4(DYM):c.1878del (p.Lys626Asnfs)
NM_017653.4(DYM):c.422-2A>G
NM_017653.4(DYM):c.48C>G (p.Tyr16Ter) rs120074161
NM_017653.4(DYM):c.621-2A>G rs775414124
NM_017653.4(DYM):c.763del (p.Thr255Glnfs)

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