List of variants reported as likely benign for Elliptocytosis by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 48

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HGVS	dbSNP	gnomAD frequency
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=)	rs229591	0.44391
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn)	rs229587	0.42630
NM_001355436.2(SPTB):c.300+7T>C	rs229581	0.41899
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=)	rs229592	0.41773
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=)	rs1626923	0.40570
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp)	rs77806	0.38794
NM_001355436.2(SPTB):c.876+5A>G	rs230703	0.36832
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=)	rs1741487	0.34432
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=)	rs1741488	0.34424
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=)	rs184528	0.34399
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=)	rs229586	0.25102
NM_001355436.2(SPTB):c.6023-8C>T	rs56181906	0.17449
NM_001355436.2(SPTB):c.6269+13C>T	rs11622977	0.17268
NM_001355436.2(SPTB):c.5799-7C>T	rs7142689	0.17051
NM_001355436.2(SPTB):c.6345+321A>G	rs189086	0.12753
NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln)	rs17180350	0.06645
NM_001355436.2(SPTB):c.4003-12T>C	rs78707026	0.06057
NM_001355436.2(SPTB):c.408C>T (p.His136=)	rs11623956	0.06031
NM_001355436.2(SPTB):c.4222G>C (p.Gly1408Arg)	rs17245552	0.06024
NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=)	rs4899145	0.05960
NM_001355436.2(SPTB):c.4564-4G>A	rs4902312	0.05860
NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=)	rs4902310	0.05857
NM_001355436.2(SPTB):c.4752C>T (p.Asn1584=)	rs4902311	0.05828
NM_001355436.2(SPTB):c.5535C>T (p.Leu1845=)	rs17180252	0.05745
NM_001355436.2(SPTB):c.6345+162G>C	rs229601	0.04555
NM_001355436.2(SPTB):c.177C>T (p.Thr59=)	rs2277503	0.04465
NM_001355436.2(SPTB):c.4121A>G (p.His1374Arg)	rs10132778	0.03447
NM_001355436.2(SPTB):c.666T>C (p.Phe222=)	rs17102119	0.01896
NM_001355436.2(SPTB):c.2934G>A (p.Glu978=)	rs72724498	0.01536
NM_001355436.2(SPTB):c.609G>A (p.Lys203=)	rs74666863	0.00811
NM_001355436.2(SPTB):c.1765G>A (p.Ala589Thr)	rs61459051	0.00757
NM_001355436.2(SPTB):c.1707G>A (p.Lys569=)	rs139116435	0.00656
NM_001355436.2(SPTB):c.5554-3C>T	rs190765118	0.00555
NM_001355436.2(SPTB):c.996C>T (p.Asn332=)	rs141060172	0.00483
NM_001355436.2(SPTB):c.4236C>T (p.Thr1412=)	rs229639	0.00286
NM_001355436.2(SPTB):c.2562C>T (p.Phe854=)	rs12433436	0.00129
NM_001355436.2(SPTB):c.1838G>T (p.Ser613Ile)	rs3742601	0.00103
NM_001355436.2(SPTB):c.2060G>A (p.Arg687His)	rs3742602	0.00101
NM_001355436.2(SPTB):c.2303G>A (p.Gly768Asp)	rs147712872	0.00043
NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val)	rs200876438	0.00011
NM_001355436.2(SPTB):c.4563+12G>C	rs1741489
NM_003126.4(SPTA1):c.*500del	rs34122435
NM_003126.4(SPTA1):c.-126_-125insTC	rs59027997
NM_003126.4(SPTA1):c.-126dup	rs34783066
NM_003126.4(SPTA1):c.6121-11del	rs548425429
NM_003126.4(SPTA1):c.6789-19_6789-18dup	rs5778083
NM_003126.4(SPTA1):c.6789-19dup	rs5778083
NM_003126.4(SPTA1):c.6789-8del	rs5778083

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