ClinVar Miner

List of variants in gene BSCL2, HNRNPUL2-BSCL2 studied for not specified

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.766-49T>C rs2850597 0.75076
NM_001122955.4(BSCL2):c.486+11G>T rs72929434 0.16805
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_001122955.4(BSCL2):c.765+15C>T rs79586077 0.03596
NM_001122955.4(BSCL2):c.1006-50T>G rs72929419 0.02144
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.1031C>T (p.Ser344Phe) rs140676897 0.00043
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=) rs370926100 0.00016
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr) rs190842600 0.00014
NM_001122955.4(BSCL2):c.1234+7G>A rs200631909 0.00011
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=) rs369806785 0.00011
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 0.00010
NM_001122955.4(BSCL2):c.88-19C>T rs760935362 0.00008
NM_001122955.4(BSCL2):c.1017A>G (p.Arg339=) rs147902831 0.00004
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu) rs149907021 0.00004
NM_001122955.4(BSCL2):c.621T>C (p.Ser207=) rs777598096 0.00004
NM_001122955.4(BSCL2):c.870G>C (p.Leu290=) rs767104988 0.00004
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys) rs141518903 0.00003
NM_001122955.4(BSCL2):c.130G>C (p.Gly44Arg) rs900971126 0.00003
NM_001122955.4(BSCL2):c.88-588T>C rs970321804 0.00003
NM_001122955.4(BSCL2):c.404+15C>G rs200598473 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001122955.4(BSCL2):c.1234+19C>T rs748453195 0.00001
NM_001122955.4(BSCL2):c.166G>A (p.Gly56Arg) rs1226106958 0.00001
NM_001122955.4(BSCL2):c.485G>A (p.Arg162Gln) rs768780378 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.1006-8C>T rs1057521013
NM_001122955.4(BSCL2):c.1085A>T (p.Gln362Leu) rs2134690209
NM_001122955.4(BSCL2):c.178C>T (p.Pro60Ser)
NM_001122955.4(BSCL2):c.306C>T (p.Ile102=) rs1554985612
NM_001122955.4(BSCL2):c.486+8T>G rs1238731769
NM_001122955.4(BSCL2):c.631G>A (p.Val211Met) rs987465261
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=) rs998498207
NM_001122955.4(BSCL2):c.968G>C (p.Trp323Ser) rs367783346

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