List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as likely benign for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)	rs145649423	0.00296
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)	rs185341934	0.00109
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)	rs144245125	0.00047
NM_001122955.4(BSCL2):c.1102C>A (p.Gln368Lys)	rs149990643	0.00040
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg)	rs151018278	0.00032
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=)	rs140208002	0.00019
NM_001122955.4(BSCL2):c.992G>A (p.Arg331His)	rs201229787	0.00019
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His)	rs149466797	0.00017
NM_001122955.4(BSCL2):c.785C>T (p.Ala262Val)	rs140896339	0.00017
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)	rs370926100	0.00016
NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile)	rs149412531	0.00013
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)	rs369806785	0.00011
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=)	rs200300686	0.00011
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)	rs10776	0.00010
NM_001122955.4(BSCL2):c.1143C>T (p.Pro381=)	rs150914934	0.00007
NM_001122955.4(BSCL2):c.432A>T (p.Ser144=)	rs144774892	0.00006
NM_001122955.4(BSCL2):c.1017A>G (p.Arg339=)	rs147902831	0.00004
NM_001122955.4(BSCL2):c.870G>C (p.Leu290=)	rs767104988	0.00004
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)	rs370905417	0.00003
NM_001122955.4(BSCL2):c.621T>C (p.Ser207=)	rs777598096	0.00003
NM_001122955.4(BSCL2):c.1288C>T (p.Pro430Ser)	rs377310581	0.00002
NM_001122955.4(BSCL2):c.420C>T (p.Ser140=)	rs780093151	0.00002
NM_001122955.4(BSCL2):c.1101G>A (p.Pro367=)	rs746737457	0.00001
NM_001122955.4(BSCL2):c.1254T>C (p.Asp418=)	rs776343859	0.00001
NM_001122955.4(BSCL2):c.249C>T (p.Val83=)	rs746722132	0.00001
NM_001122955.4(BSCL2):c.408C>T (p.Thr136=)	rs754001369	0.00001
NM_001122955.4(BSCL2):c.466A>G (p.Thr156Ala)	rs137930278	0.00001
NM_001122955.4(BSCL2):c.631-6C>T	rs768294248	0.00001
NM_001122955.4(BSCL2):c.660C>T (p.Leu220=)	rs950978890	0.00001
NM_001122955.4(BSCL2):c.1005+4G>T	rs367731146
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=)	rs17850877
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del)	rs556562410
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])	rs747175358
NM_001122955.4(BSCL2):c.1317C>A (p.Val439=)	rs1057516190
NM_001122955.4(BSCL2):c.306C>T (p.Ile102=)	rs1554985612
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=)	rs998498207
NM_001122955.4(BSCL2):c.864A>G (p.Arg288=)

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