ClinVar Miner

List of variants in gene combination HGSNAT, LOC130000316 reported as likely benign for Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=) rs1018475767 0.00061
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys) rs867446205 0.00035
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952 0.00031
NM_152419.3(HGSNAT):c.118+17T>C rs912987473 0.00004
NM_152419.3(HGSNAT):c.87G>C (p.Ser29=) rs1461385635 0.00004
NM_152419.3(HGSNAT):c.90G>T (p.Gly30=) rs1187482453 0.00002
NM_152419.3(HGSNAT):c.111G>A (p.Pro37=) rs886062953 0.00001
NM_152419.3(HGSNAT):c.118+10C>A rs768117824 0.00001
NM_152419.3(HGSNAT):c.39G>C (p.Leu13=) rs1335563220 0.00001
NM_152419.3(HGSNAT):c.45G>A (p.Ala15=) rs1351688097 0.00001
NM_152419.3(HGSNAT):c.48C>G (p.Ser16=) rs1802479958 0.00001
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=) rs1251787808 0.00001
NM_152419.3(HGSNAT):c.64C>T (p.Leu22=) rs1164054537 0.00001
NM_152419.3(HGSNAT):c.102G>A (p.Gln34=)
NM_152419.3(HGSNAT):c.105C>G (p.Ala35=)
NM_152419.3(HGSNAT):c.105C>T (p.Ala35=)
NM_152419.3(HGSNAT):c.108G>C (p.Ala36=) rs886062952
NM_152419.3(HGSNAT):c.115C>A (p.Arg39=)
NM_152419.3(HGSNAT):c.118+10C>T rs768117824
NM_152419.3(HGSNAT):c.118+11A>C
NM_152419.3(HGSNAT):c.118+11A>G
NM_152419.3(HGSNAT):c.118+12C>G rs1408305187
NM_152419.3(HGSNAT):c.118+12C>T
NM_152419.3(HGSNAT):c.118+13C>A
NM_152419.3(HGSNAT):c.118+13C>G
NM_152419.3(HGSNAT):c.118+13C>T
NM_152419.3(HGSNAT):c.118+16C>G rs1457633859
NM_152419.3(HGSNAT):c.118+16C>T
NM_152419.3(HGSNAT):c.118+18A>C
NM_152419.3(HGSNAT):c.118+18A>G
NM_152419.3(HGSNAT):c.118+19C>T
NM_152419.3(HGSNAT):c.118+20C>G rs1802485942
NM_152419.3(HGSNAT):c.118+20C>T rs1802485942
NM_152419.3(HGSNAT):c.118+7G>A rs1298192155
NM_152419.3(HGSNAT):c.118+7G>C
NM_152419.3(HGSNAT):c.118+8C>G rs2130648798
NM_152419.3(HGSNAT):c.118+8C>T rs2130648798
NM_152419.3(HGSNAT):c.118+9A>C
NM_152419.3(HGSNAT):c.12G>C (p.Ala4=) rs1018475767
NM_152419.3(HGSNAT):c.12G>T (p.Ala4=) rs1018475767
NM_152419.3(HGSNAT):c.18G>A (p.Arg6=)
NM_152419.3(HGSNAT):c.21G>A (p.Ala7=) rs1297145817
NM_152419.3(HGSNAT):c.27C>A (p.Ala9=) rs1802478612
NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)
NM_152419.3(HGSNAT):c.34C>T (p.Leu12=)
NM_152419.3(HGSNAT):c.37C>T (p.Leu13=) rs2130647858
NM_152419.3(HGSNAT):c.42C>A (p.Ala14=)
NM_152419.3(HGSNAT):c.42C>T (p.Ala14=)
NM_152419.3(HGSNAT):c.45G>C (p.Ala15=) rs1351688097
NM_152419.3(HGSNAT):c.48C>T (p.Ser16=)
NM_152419.3(HGSNAT):c.51G>A (p.Val17=) rs1229423417
NM_152419.3(HGSNAT):c.54G>A (p.Leu18=)
NM_152419.3(HGSNAT):c.57C>T (p.Ser19=)
NM_152419.3(HGSNAT):c.66G>A (p.Leu22=) rs2130648121
NM_152419.3(HGSNAT):c.67C>T (p.Leu23=) rs1198688385
NM_152419.3(HGSNAT):c.69G>A (p.Leu23=) rs1563349632
NM_152419.3(HGSNAT):c.6C>T (p.Ser2=) rs535427008
NM_152419.3(HGSNAT):c.72C>T (p.Ala24=) rs2130648208
NM_152419.3(HGSNAT):c.75C>T (p.Pro25=)
NM_152419.3(HGSNAT):c.78C>T (p.Gly26=) rs1260742657
NM_152419.3(HGSNAT):c.81C>T (p.Gly27=)
NM_152419.3(HGSNAT):c.90G>C (p.Gly30=) rs1187482453
NM_152419.3(HGSNAT):c.93C>G (p.Arg31=)
NM_152419.3(HGSNAT):c.93C>T (p.Arg31=)
NM_152419.3(HGSNAT):c.99C>A (p.Ala33=) rs1586689721
NM_152419.3(HGSNAT):c.99C>G (p.Ala33=) rs1586689721
NM_152419.3(HGSNAT):c.99C>T (p.Ala33=)
NM_152419.3(HGSNAT):c.9G>A (p.Gly3=)

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