ClinVar Miner

Variants in gene SGSH with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761 0.00230
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala) rs144461610 0.00148
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00097
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611 0.00088
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00023
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954 0.00003
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys) rs200644359

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