ClinVar Miner

List of variants in gene SGSH reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.250-26C>T rs4889839 0.54568
NM_000199.5(SGSH):c.663+17T>C rs6565647 0.46516
NM_000199.5(SGSH):c.664-36T>C rs35087113 0.31148
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034 0.31021
NM_000199.5(SGSH):c.89-45G>A rs9900509 0.11554
NM_000199.5(SGSH):c.89-39G>A rs9900502 0.11282
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_000199.5(SGSH):c.664-50G>A rs117217614 0.03422
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455 0.02463
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile) rs34297805 0.01381
NM_000199.5(SGSH):c.675C>T (p.Phe225=) rs34520362 0.00580
NM_000199.5(SGSH):c.249+25G>T rs200104349 0.00372
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly) rs113641837 0.00359
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761 0.00230
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290 0.00186
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764 0.00103
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639 0.00066
NM_000199.5(SGSH):c.507-7C>T rs200965114 0.00056
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699 0.00044
NM_000199.5(SGSH):c.89-4G>A rs375536965 0.00032
NM_000199.5(SGSH):c.999C>T (p.Tyr333=) rs149139346 0.00030
NM_000199.5(SGSH):c.397C>A (p.Pro133Thr) rs199643693 0.00006
NM_000199.5(SGSH):c.1359C>T (p.Thr453=) rs751980056 0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.182G>A (p.Arg61His)
NM_000199.5(SGSH):c.526G>A (p.Ala176Thr)
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.664-39_664-38del rs34029730
NM_000199.5(SGSH):c.90G>A (p.Ala30=)
NM_000199.5(SGSH):c.950-88C>T

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