ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as benign by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.315+16G>C rs10768683 0.82893
NM_000518.5(HBB):c.316-185C>T rs1609812 0.82712
NM_000518.5(HBB):c.315+74T>G rs7480526 0.44189
NM_000518.5(HBB):c.315+81C>T rs7946748 0.10445
NM_000518.4(HBB):c.*233G>C rs12788013 0.10429
NM_000518.5(HBB):c.316-373C>A rs78815705 0.02031
NM_000518.4(HBB):c.*182G>A rs113969885 0.01596
NM_000518.5(HBB):c.315+220C>T rs113152027 0.00287
NM_000518.5(HBB):c.315+26T>G rs368604295 0.00234
NM_000518.5(HBB):c.315+380T>C rs190369729 0.00212
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563 0.00145
NM_000518.5(HBB):c.316-70C>G rs193922560 0.00099
NM_000518.4(HBB):c.*296T>C rs570662275 0.00089
NM_000518.5(HBB):c.316-37G>T rs193922559 0.00058
NM_000518.5(HBB):c.316-45G>C rs140033163 0.00024
NM_000518.5(HBB):c.316-179A>C rs185607297 0.00009
NM_000518.5(HBB):c.315+180T>C rs529931134 0.00006
NM_000518.5(HBB):c.315+205dup rs879578966
NM_000518.5(HBB):c.315+229dup
NM_000518.5(HBB):c.316-315dup
NM_000518.5(HBB):c.316-38del
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294

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