ClinVar Miner

List of variants in gene SGSH reported as likely benign for not provided

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_000199.5(SGSH):c.950-183A>G rs74000618 0.02593
NM_000199.5(SGSH):c.249+52G>A rs113672699 0.02447
NM_000199.5(SGSH):c.663+87A>G rs74841027 0.01430
NM_000199.5(SGSH):c.664-127A>G rs181508522 0.01232
NM_000199.5(SGSH):c.*201A>T rs139066649 0.00913
NM_000199.5(SGSH):c.89-144C>T rs116726024 0.00835
NM_000199.5(SGSH):c.664-111G>A rs141802955 0.00709
NM_000199.5(SGSH):c.522C>T (p.Tyr174=) rs147064455 0.00647
NM_000199.5(SGSH):c.745+79C>T rs180932573 0.00492
NM_000199.5(SGSH):c.507-38G>A rs200492833 0.00477
NM_000199.5(SGSH):c.249+25G>T rs200104349 0.00372
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761 0.00230
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056 0.00050
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699 0.00044
NM_000199.5(SGSH):c.117G>A (p.Ala39=) rs201132655 0.00003
NM_000199.5(SGSH):c.1371T>C (p.Phe457=) rs867660906 0.00002
NM_000199.5(SGSH):c.537C>T (p.Asp179=) rs771440037 0.00002
NM_000199.5(SGSH):c.564C>T (p.Pro188=) rs1378805024 0.00002
NM_000199.5(SGSH):c.606C>T (p.Ser202=) rs544509805 0.00001
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.746-140G>C rs112816244
NM_000199.5(SGSH):c.88+23C>G rs77032342
NM_000199.5(SGSH):c.888G>A (p.Val296=) rs1598742505
NM_000199.5(SGSH):c.949+92T>A

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