ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP
NM_002180.2(IGHMBP2):c.1193C>A (p.Ala398Glu) rs35193202
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.2T>C (p.Met1Thr) rs886037759
NM_002180.2(IGHMBP2):c.547+1G>A rs1057518588
NM_002180.2(IGHMBP2):c.688C>G (p.Gln230Glu) rs1555243325
NM_002180.2(IGHMBP2):c.729delC
NM_002180.2(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_002180.2(IGHMBP2):c.[660A>C];[92G>A]

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