ClinVar Miner

List of variants in gene IGHMBP2 reported by Genesis Genome Database

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.2960G>A (p.Arg987Gln) rs199863781 0.00009
NM_002180.3(IGHMBP2):c.277G>A (p.Asp93Asn) rs200897747 0.00005
NM_002180.3(IGHMBP2):c.2713G>A (p.Gly905Ser) rs772387164 0.00004
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met) rs201112136 0.00004
NM_002180.3(IGHMBP2):c.1236-6G>A rs201538340 0.00003
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927 0.00002
NM_002180.3(IGHMBP2):c.1062T>G (p.Gly354=) rs1161757831 0.00001
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr) rs1193634362 0.00001
NM_002180.3(IGHMBP2):c.1235+1076G>A rs762272501 0.00001
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002180.3(IGHMBP2):c.2561A>G (p.Gln854Arg) rs1300949116 0.00001
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) rs780802298 0.00001
NM_002180.3(IGHMBP2):c.83G>A (p.Arg28His) rs892885630 0.00001
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.3(IGHMBP2):c.1714_1716del (p.Lys572del) rs775542203
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) rs1413846126
NM_002180.3(IGHMBP2):c.2665G>C (p.Ala889Pro) rs1594458354
NM_002180.3(IGHMBP2):c.2770C>T (p.His924Tyr) rs1594458556
NM_002180.3(IGHMBP2):c.2773del (p.His925fs) rs1594458566
NM_002180.3(IGHMBP2):c.2777T>C (p.Leu926Pro) rs1594458574
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg) rs1594459783
NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) rs746581714

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