ClinVar Miner

List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported by Athena Diagnostics Inc

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys) rs201493373 0.00061
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg) rs151018278 0.00036
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) rs149466797 0.00016
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 0.00010
NM_001122955.4(BSCL2):c.885G>A (p.Pro295=) rs559783362 0.00005
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001122955.4(BSCL2):c.1006-8C>T rs1057521013
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala) rs199584887
NM_001122955.4(BSCL2):c.419C>G (p.Ser140Cys) rs1590881712
NM_001122955.4(BSCL2):c.422C>T (p.Ser141Phe) rs1590881708
NM_001122955.4(BSCL2):c.486+8T>G rs1238731769
NM_001122955.4(BSCL2):c.631-6C>A rs768294248
NM_001122955.4(BSCL2):c.631G>A (p.Val211Met) rs987465261
NM_001122955.4(BSCL2):c.783A>G (p.Gly261=) rs1565144454
NM_001122955.4(BSCL2):c.968G>C (p.Trp323Ser) rs367783346
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533

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