ClinVar Miner

List of variants reported as likely pathogenic for Spinal muscular atrophy, distal, autosomal recessive, 1

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Total variants: 17
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NM_002180.2(IGHMBP2):c.1193C>A (p.Ala398Glu) rs35193202
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541
NM_002180.2(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.2(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678
NM_002180.2(IGHMBP2):c.1418+1G>C rs1160978570
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1616C>T (p.Ser539Leu) rs879253887
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.2(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840
NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002180.2(IGHMBP2):c.547+1G>A rs1057518588
NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.2(IGHMBP2):c.688C>G (p.Gln230Glu) rs1555243325
NM_002180.2(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_002180.3(IGHMBP2):c.729del (p.Ser244fs) rs1594427410
NM_002180.3(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714

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