ClinVar Miner

List of variants studied for Sanfilippo syndrome type D

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP
NM_002076.4(GNS):c.1063C>T (p.Arg355Ter) rs119461974
NM_002076.4(GNS):c.1138_1139insGTCCT (p.Asp380fs) rs483352899
NM_002076.4(GNS):c.1168C>T (p.Gln390Ter) rs119461975
NM_002076.4(GNS):c.1169del (p.Gln390fs) rs483352898
NM_002076.4(GNS):c.1226dup (p.Ser410fs) rs483352900
NM_002076.4(GNS):c.1309-6C>G
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096
NM_002076.4(GNS):c.253-10del rs201654719
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291
NM_002076.4(GNS):c.682A>G (p.Met228Val)
NM_002076.4(GNS):c.688G>A (p.Ala230Thr)
NM_002076.4(GNS):c.814C>T (p.Gln272Ter)
NM_014226.3(MOK):c.630_631dup (p.Ile211fs) rs769431982

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