ClinVar Miner

List of variants in gene HEXB reported as uncertain significance by Counsyl

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_000521.4(HEXB):c.1614-16_1615dup rs1554037309 0.00002
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys) rs749646826 0.00001
NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla) rs768218036 0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392 0.00001
NM_000521.4(HEXB):c.512-3C>A rs1376742145 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000521.4(HEXB):c.*4dup (p.Ter557=) rs771506320
NM_000521.4(HEXB):c.127G>T (p.Ala43Ser) rs797045614
NM_000521.4(HEXB):c.1425GAAACA[1] (p.476KQ[1]) rs750595127
NM_000521.4(HEXB):c.1613+15_1613+18dup rs779273534
NM_000521.4(HEXB):c.1614-25_1614-7dup rs1554037306
NM_000521.4(HEXB):c.1614-8_1614-6dup rs1271274603
NM_000521.4(HEXB):c.1627_1638del (p.Ala543_Leu546del) rs1554037322
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr) rs727503961
NM_000521.4(HEXB):c.230_232del (p.Phe77del) rs1554034490
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del) rs760427424
NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del) rs1554034424
NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del) rs887796660
NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del) rs1554034426
NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del) rs745791892
NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del) rs1554034432

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