ClinVar Miner

List of variants reported as likely pathogenic for Sandhoff disease

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Total variants: 54
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HGVS dbSNP
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.1024G>T (p.Glu342Ter)
NM_000521.4(HEXB):c.1039C>T (p.Gln347Ter)
NM_000521.4(HEXB):c.1069G>T (p.Glu357Ter)
NM_000521.4(HEXB):c.1082+2T>C
NM_000521.4(HEXB):c.1082+5G>A rs5030731
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter)
NM_000521.4(HEXB):c.1169+3_1169+10del rs398123444
NM_000521.4(HEXB):c.118del (p.Ala40fs) rs1554034447
NM_000521.4(HEXB):c.1242+3G>T
NM_000521.4(HEXB):c.1242G>A (p.Lys414=) rs1309123671
NM_000521.4(HEXB):c.1243-2A>G rs398123446
NM_000521.4(HEXB):c.1287T>A (p.Tyr429Ter)
NM_000521.4(HEXB):c.1287T>G (p.Tyr429Ter)
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) rs779328596
NM_000521.4(HEXB):c.133del (p.Ala45fs) rs1554034449
NM_000521.4(HEXB):c.1345del (p.Trp449fs)
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter) rs1554036943
NM_000521.4(HEXB):c.1418-12_1418del rs1554037076
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) rs1554034452
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) rs121907985
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983
NM_000521.4(HEXB):c.1520del (p.Ser507fs) rs1554037120
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs) rs1554037129
NM_000521.4(HEXB):c.1563_1573del (p.Met522fs)
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer) rs1554037137
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042
NM_000521.4(HEXB):c.1611_1613+2del rs1554037170
NM_000521.4(HEXB):c.1642_1657del (p.Ala548fs)
NM_000521.4(HEXB):c.298del (p.Arg100fs) rs886039499
NM_000521.4(HEXB):c.299+1G>A rs1554034505
NM_000521.4(HEXB):c.300-1G>A rs967720287
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter)
NM_000521.4(HEXB):c.445+1G>C rs761197472
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) rs753823903
NM_000521.4(HEXB):c.512-1G>T rs1554035308
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter)
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.558+1G>C
NM_000521.4(HEXB):c.558+5G>A rs892920643
NM_000521.4(HEXB):c.559-1G>T
NM_000521.4(HEXB):c.56del (p.Leu19fs) rs1554034423
NM_000521.4(HEXB):c.639T>G (p.Tyr213Ter)
NM_000521.4(HEXB):c.703C>T (p.His235Tyr)
NM_000521.4(HEXB):c.739C>T (p.Gln247Ter)
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser) rs771103635
NM_000521.4(HEXB):c.778T>C (p.Tyr260His) rs1453919511
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283
NM_000521.4(HEXB):c.825del (p.Ile275fs) rs1554036523
NM_000521.4(HEXB):c.902-1G>T rs1554036638
NM_000521.4(HEXB):c.965del (p.Ile322fs) rs768438206

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