ClinVar Miner

List of variants reported as likely pathogenic for mucopolysaccharidosis type 3D

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002076.4(GNS):c.1308+2T>C rs750645480 0.00003
NC_000012.11:g.(?_65133151)_(65146547_?)dup
NM_002076.4(GNS):c.1019A>G (p.Lys340Arg)
NM_002076.4(GNS):c.1098+1G>A
NM_002076.4(GNS):c.1200+1G>T
NM_002076.4(GNS):c.1200+2T>A rs2136240508
NM_002076.4(GNS):c.236_252+8del rs2136253236
NM_002076.4(GNS):c.252+1G>T rs368414819
NM_002076.4(GNS):c.616_617del (p.Asp206fs)
NM_002076.4(GNS):c.625-1G>A
NM_002076.4(GNS):c.625-2A>G rs2136247666
NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
NM_002076.4(GNS):c.792+1G>A
NM_002076.4(GNS):c.995-2A>C

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