ClinVar Miner

List of variants studied for Sandhoff disease by Natera, Inc.

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser) rs820878 0.97243
NM_000521.4(HEXB):c.-126C>T rs71627068 0.55186
NM_000521.4(HEXB):c.-122del rs70976124 0.55177
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) rs11556045 0.20835
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_000521.4(HEXB):c.772-4A>G rs17561000 0.06806
NM_000521.4(HEXB):c.-175G>A rs73117116 0.03911
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) rs148268937 0.00967
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val) rs77499935 0.00923
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_000521.4(HEXB):c.276C>T (p.Thr92=) rs140509633 0.00569
NM_000521.4(HEXB):c.383T>G (p.Leu128Arg) rs113678356 0.00177
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) rs145056714 0.00051
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238 0.00035
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_000521.4(HEXB):c.1670A>G (p.Ter557=) rs576145664 0.00016
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_000521.4(HEXB):c.216C>T (p.Leu72=) rs780221860 0.00008
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.1082+5G>A rs5030731 0.00004
NM_000521.4(HEXB):c.1243-6T>C rs759404927 0.00004
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) rs121907985 0.00004
NM_000521.4(HEXB):c.672T>C (p.Asp224=) rs761223179 0.00004
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly) rs794727049 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000521.4(HEXB):c.1040A>T (p.Gln347Leu) rs754108567 0.00002
NM_000521.4(HEXB):c.1045A>G (p.Ile349Val) rs373731814 0.00001
NM_000521.4(HEXB):c.14G>A (p.Gly5Glu) rs1400667054 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.1614-16_1622dup rs756912360 0.00001
NM_000521.4(HEXB):c.1625C>T (p.Ala542Val) rs767663018 0.00001
NM_000521.4(HEXB):c.1655A>G (p.Asn552Ser) rs763927371 0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392 0.00001
NM_000521.4(HEXB):c.509G>A (p.Arg170Gln) rs759538325 0.00001
NM_000521.4(HEXB):c.59C>A (p.Ala20Glu) rs865822685 0.00001
NM_000521.4(HEXB):c.786G>T (p.Leu262Phe) rs867255937 0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) rs121907986 0.00001
NM_000521.4(HEXB):c.1082+2T>C rs989299922
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val) rs757550590
NM_000521.4(HEXB):c.1345del (p.Trp449fs) rs1324338803
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.150C>T (p.Ala50=) rs779421706
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.1583G>T (p.Arg528Ile) rs760366178
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000521.4(HEXB):c.1613+14del rs754704434
NM_000521.4(HEXB):c.300A>C (p.Arg100=) rs1303786596
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del) rs760427424
NM_000521.4(HEXB):c.42G>A (p.Leu14=) rs1580377030
NM_000521.4(HEXB):c.986C>T (p.Thr329Ile) rs1561226697

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