ClinVar Miner

List of variants in gene DPYS reported as likely pathogenic for not provided

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001385.3(DPYS):c.1469G>A (p.Arg490His) rs189448963 0.00021
NM_001385.3(DPYS):c.1137C>A (p.Ser379Arg) rs201258823 0.00016
NM_001385.3(DPYS):c.1078T>C (p.Trp360Arg) rs121964924 0.00004
NM_001385.3(DPYS):c.424-1G>A rs879851088 0.00002
NC_000008.10:g.(?_105436455)_(105463652_?)dup
NM_001385.3(DPYS):c.101del (p.Ala34fs) rs1470151699
NM_001385.3(DPYS):c.1092+5del
NM_001385.3(DPYS):c.905G>A (p.Arg302Gln) rs200913682

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