ClinVar Miner

List of variants in gene HGSNAT reported as pathogenic for Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73

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Gene type:
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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.493+1G>A rs193066451 0.00013
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys) rs369292480 0.00011
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582 0.00004
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864 0.00004
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211 0.00003
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_152419.3(HGSNAT):c.372-2A>G rs483352896 0.00002
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894 0.00001
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs) rs771455190 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928 0.00001
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe) rs121908286 0.00001
NM_152419.3(HGSNAT):c.234+1G>A rs483352908 0.00001
NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter) rs1563366896 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_152419.3(HGSNAT):c.852-2A>C rs755710040 0.00001
NC_000008.10:g.(?_43002071)_(43033397_?)del
NC_000008.10:g.(?_43013698)_(43014207_?)del
NC_000008.10:g.(?_43024296)_(43024405_?)del
NC_000008.10:g.(?_43025708)_(43028906_?)del
NC_000008.10:g.(?_43027433)_(43027549_?)del
NC_000008.10:g.(?_43052071)_(43054712_?)del
NC_000008.11:g.(?_43140497)_(43161507_?)del
NC_000008.11:g.(?_43169153)_(43178254_?)del
NC_000008.11:g.(?_43196928)_(43197972_?)del
NM_152419.3(HGSNAT):c.1034_1049del (p.Ile345fs) rs2130783645
NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter) rs752939204
NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter) rs756420301
NM_152419.3(HGSNAT):c.1054_1055insATCAATTTCTAATGGGATTTCCAGAGTTGAAAAAGACAAATATTCAGCTTTAGGAAGCACAGTTGAGTCCTGAGCAGTACAAATAAAAATATAGGCTGGGCACAGTGGCTCACATGTGTAATCCCAGCACTTTCGGAGGCTGAGGTGGGTGGATTGCTGGAGTCCAGCAGTTTGAAAACAGCCTGAGCAACATGGCAAGACCCCATCTCTACAAAAAATACAACAATTATCCGGGCATGGTGGCACAAGCCCGTAGTCCCAGCTACTCAGGAAGCTGAGGTGGATCGCTTGAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCACACTGAATGACAGAGTGAGACTGTCTTAATAAAAAATATGAGTCAGCGTATAAGTTAAAAGGAGTTTTAAAAGATACTAATCCAAAAGAAGGCAGAAAAGGAGAAACATAATAGACTTACCAGCCCAATTTAAAAGTCAGGGATTATAAACATGAATTGAAGAAGTGAGACCCAGTTA (p.Leu352delinsTyrGlnPheLeuMetGlyPheProGluLeuLysLysThrAsnIleGlnLeuTer) rs2130783742
NM_152419.3(HGSNAT):c.1102A>T (p.Lys368Ter) rs954238515
NM_152419.3(HGSNAT):c.1139del (p.Cys380fs)
NM_152419.3(HGSNAT):c.1153_1154insCTGG (p.Asp385fs)
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs) rs748387885
NM_152419.3(HGSNAT):c.1174C>T (p.Gln392Ter) rs1804527418
NM_152419.3(HGSNAT):c.1245C>A (p.Cys415Ter) rs375616017
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs) rs1804565177
NM_152419.3(HGSNAT):c.127A>T (p.Lys43Ter)
NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter) rs1804568176
NM_152419.3(HGSNAT):c.133dup (p.Arg45fs) rs1220771600
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter) rs1057518644
NM_152419.3(HGSNAT):c.1401del (p.Tyr468fs)
NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs) rs759057396
NM_152419.3(HGSNAT):c.1464+1del rs2130810933
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1508dup (p.Leu504fs) rs2130819661
NM_152419.3(HGSNAT):c.150del (p.Met51fs) rs1802737867
NM_152419.3(HGSNAT):c.1542+4dup rs1401818080
NM_152419.3(HGSNAT):c.1610del (p.Leu537fs) rs2130821307
NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter) rs1586698317
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter) rs1554537841
NM_152419.3(HGSNAT):c.1691dup (p.Leu566fs)
NM_152419.3(HGSNAT):c.1700G>A (p.Trp567Ter) rs1804781641
NM_152419.3(HGSNAT):c.244C>T (p.Gln82Ter)
NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter) rs1803166332
NM_152419.3(HGSNAT):c.376G>T (p.Glu126Ter) rs1803180587
NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter) rs1803181154
NM_152419.3(HGSNAT):c.451del (p.Cys151fs)
NM_152419.3(HGSNAT):c.493+1G>C
NM_152419.3(HGSNAT):c.494-1G>A
NM_152419.3(HGSNAT):c.494-2A>G
NM_152419.3(HGSNAT):c.505dup (p.Ala169fs)
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) rs370717845
NM_152419.3(HGSNAT):c.523dup (p.Ala175fs)
NM_152419.3(HGSNAT):c.525dup (p.Val176fs) rs483352895
NM_152419.3(HGSNAT):c.557T>A (p.Leu186Ter)
NM_152419.3(HGSNAT):c.610G>T (p.Glu204Ter)
NM_152419.3(HGSNAT):c.634G>T (p.Glu212Ter)
NM_152419.3(HGSNAT):c.679C>T (p.Gln227Ter) rs1803593441
NM_152419.3(HGSNAT):c.682_740del (p.Pro228fs) rs2130745878
NM_152419.3(HGSNAT):c.698dup (p.Ser234fs)
NM_152419.3(HGSNAT):c.719del (p.Leu240fs) rs2130746148
NM_152419.3(HGSNAT):c.739del (p.Arg247fs) rs1085307880
NM_152419.3(HGSNAT):c.781G>T (p.Gly261Ter) rs2130750698
NM_152419.3(HGSNAT):c.793dup (p.Trp265fs)
NM_152419.3(HGSNAT):c.852-1G>A rs1447092074
NM_152419.3(HGSNAT):c.852-2A>G
NM_152419.3(HGSNAT):c.852G>A (p.Trp284Ter)
NM_152419.3(HGSNAT):c.884_885insTATTTTTTTTTATTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCTTCCATTTTTCT (p.Leu295_Ser296insIlePhePheTyrPhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer) rs2130766198
NM_152419.3(HGSNAT):c.887C>A (p.Ser296Ter) rs372933126
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter) rs1803878901
NM_152419.3(HGSNAT):c.932del (p.Leu311fs)
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) rs1554533211
NM_152419.3(HGSNAT):c.959del (p.Leu320fs)
NM_152419.3(HGSNAT):c.969C>A (p.Cys323Ter)
NM_152419.3(HGSNAT):c.974G>A (p.Gly325Glu) rs753315223

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