ClinVar Miner

List of variants studied for Sanfilippo syndrome type D by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 30
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HGVS dbSNP
NC_000012.12:g.(?_64716721)_(64723133_?)del
NC_000012.12:g.(?_64739371)_(64747928_?)del
NC_000012.12:g.(?_64747692)_(64747938_?)del
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725
NM_002076.4(GNS):c.1113C>T (p.Asn371=) rs116798538
NM_002076.4(GNS):c.1140C>T (p.Asp380=) rs749616788
NM_002076.4(GNS):c.1308+2T>C
NM_002076.4(GNS):c.1309-6C>G rs1592491918
NM_002076.4(GNS):c.1434C>G (p.Val478=) rs141958901
NM_002076.4(GNS):c.1453C>G (p.Pro485Ala) rs138790252
NM_002076.4(GNS):c.156C>T (p.Leu52=) rs951936514
NM_002076.4(GNS):c.1578C>T (p.Pro526=) rs753472052
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822
NM_002076.4(GNS):c.193-9C>T rs372633889
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823
NM_002076.4(GNS):c.253-10del rs201654719
NM_002076.4(GNS):c.279C>T (p.Pro93=) rs1592506570
NM_002076.4(GNS):c.285A>G (p.Arg95=) rs545765198
NM_002076.4(GNS):c.30G>A (p.Arg10=) rs753033310
NM_002076.4(GNS):c.381A>G (p.Gln127=) rs374002057
NM_002076.4(GNS):c.468C>T (p.Ala156=) rs147780685
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930
NM_002076.4(GNS):c.577C>T (p.Arg193Trp) rs144220755
NM_002076.4(GNS):c.624+10A>G rs757526895
NM_002076.4(GNS):c.682A>G (p.Met228Val) rs1338194520
NM_002076.4(GNS):c.688G>A (p.Ala230Thr) rs140270805
NM_002076.4(GNS):c.791C>T (p.Thr264Met)
NM_002076.4(GNS):c.793-9A>G rs780164582
NM_002076.4(GNS):c.942G>A (p.Gly314=) rs376505567
NM_002076.4(GNS):c.968A>G (p.Tyr323Cys)

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