ClinVar Miner

List of variants studied for Sanfilippo syndrome by Natera, Inc.

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ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096 0.70681
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291 0.09139
NM_002076.4(GNS):c.1650T>C (p.His550=) rs2230292 0.03695
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823 0.00937
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822 0.00929
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725 0.00349
NM_002076.4(GNS):c.1113C>T (p.Asn371=) rs116798538 0.00279
NM_002076.4(GNS):c.876-3C>T rs73323465 0.00045
NM_002076.4(GNS):c.117G>T (p.Gly39=) rs371407400 0.00043
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_002076.4(GNS):c.468C>T (p.Ala156=) rs147780685 0.00031
NM_002076.4(GNS):c.5G>C (p.Arg2Pro) rs759075764 0.00016
NM_002076.4(GNS):c.577C>T (p.Arg193Trp) rs144220755 0.00011
NM_002076.4(GNS):c.624+10A>G rs757526895 0.00009
NM_002076.4(GNS):c.*3dup rs766104697 0.00008
NM_002076.4(GNS):c.462C>T (p.Tyr154=) rs139536679 0.00008
NM_002076.4(GNS):c.30G>A (p.Arg10=) rs753033310 0.00006
NM_002076.4(GNS):c.791C>T (p.Thr264Met) rs575544204 0.00005
NM_002076.4(GNS):c.688G>A (p.Ala230Thr) rs140270805 0.00004
NM_002076.4(GNS):c.77T>C (p.Leu26Pro) rs899951878 0.00004
NM_002076.4(GNS):c.793-9A>G rs780164582 0.00004
NM_002076.4(GNS):c.968A>G (p.Tyr323Cys) rs888774422 0.00004
NM_002076.4(GNS):c.1155C>A (p.Asp385Glu) rs755021062 0.00003
NM_002076.4(GNS):c.1308+2T>C rs750645480 0.00003
NM_002076.4(GNS):c.676T>G (p.Phe226Val) rs1283873163 0.00003
NM_002076.4(GNS):c.1618G>A (p.Gly540Ser) rs771940326 0.00002
NM_002076.4(GNS):c.285A>G (p.Arg95=) rs545765198 0.00002
NM_002076.4(GNS):c.1147G>A (p.Gly383Ser) rs756633427 0.00001
NM_002076.4(GNS):c.1262G>A (p.Arg421His) rs774084161 0.00001
NM_002076.4(GNS):c.1452C>T (p.Asp484=) rs1252524521 0.00001
NM_002076.4(GNS):c.1578C>T (p.Pro526=) rs753472052 0.00001
NM_002076.4(GNS):c.160A>G (p.Thr54Ala) rs768291103 0.00001
NM_002076.4(GNS):c.682A>G (p.Met228Val) rs1338194520 0.00001
NM_002076.4(GNS):c.850T>C (p.Phe284Leu) rs978501400 0.00001
NM_002076.4(GNS):c.1309-9T>C rs1869033080
NM_002076.4(GNS):c.132C>G (p.Thr44=) rs1592514574
NM_002076.4(GNS):c.253-10del rs201654719
NM_002076.4(GNS):c.625-2A>G rs2136247666
NM_002076.4(GNS):c.698C>T (p.Ala233Val) rs766044815

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