ClinVar Miner

List of variants in gene SGSH reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581 0.00002
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1130G>A (p.Arg377His) rs746037899
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.265_269del (p.Tyr89fs) rs2041840084

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