ClinVar Miner

Variants in gene ARSB with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_000046.5(ARSB):c.1337-3T>A rs183651028 0.00066
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn) rs200040980 0.00039
NM_000046.5(ARSB):c.1533C>T (p.Pro511=) rs528157833 0.00013
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile) rs199931771 0.00010
NM_000046.5(ARSB):c.1122C>T (p.Phe374=) rs149886659 0.00009
NM_000046.5(ARSB):c.1086G>A (p.Arg362=) rs144879531 0.00004
NM_000046.5(ARSB):c.510G>C (p.Leu170=) rs768312895 0.00004
NM_000046.5(ARSB):c.975C>T (p.Gly325=) rs75766476 0.00004
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271 0.00003
NM_000046.5(ARSB):c.1224C>T (p.Asn408=) rs762454192 0.00001
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121 0.00001
NM_000046.5(ARSB):c.1214-15A>T rs1353542088
NM_000046.5(ARSB):c.666C>T (p.Leu222=) rs1752122294
NM_000046.5(ARSB):c.951A>G (p.Arg317=) rs1318270777

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