ClinVar Miner

Variants in gene HEXB 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: 17
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HGVS dbSNP gnomAD frequency
NM_000521.4(HEXB):c.1082+13C>T rs201428805 0.00080
NM_000521.4(HEXB):c.1417+11C>T rs146572414 0.00062
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238 0.00035
NM_000521.4(HEXB):c.918G>C (p.Leu306=) rs140607282 0.00031
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr) rs140627230 0.00016
NM_000521.4(HEXB):c.1670A>G (p.Ter557=) rs576145664 0.00016
NM_000521.4(HEXB):c.1269A>G (p.Val423=) rs746407358 0.00006
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927 0.00005
NM_000521.4(HEXB):c.1572C>T (p.Asp524=) rs770560389 0.00005
NM_000521.4(HEXB):c.672T>C (p.Asp224=) rs761223179 0.00004
NM_000521.4(HEXB):c.1083-14A>C rs776536464 0.00002
NM_000521.4(HEXB):c.156G>A (p.Pro52=) rs758965664 0.00001
NM_000521.4(HEXB):c.150C>T (p.Ala50=) rs779421706
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000521.4(HEXB):c.1613+14del rs754704434
NM_000521.4(HEXB):c.42G>A (p.Leu14=) rs1580377030
NM_000521.4(HEXB):c.670-14_670-13del rs886060751

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