ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive limb-girdle muscular dystrophy type 2H by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP
NM_001365068.1(ASTN2):c.2806+24577T>G rs886063388
NM_001365068.1(ASTN2):c.2806+24860T>C rs886063386
NM_001365068.1(ASTN2):c.2806+24990G>A rs41266677
NM_001365068.1(ASTN2):c.2806+25007A>G rs886063385
NM_001365068.1(ASTN2):c.2806+25132T>C rs886063384
NM_001365068.1(ASTN2):c.2806+25201T>G rs886063383
NM_001365068.1(ASTN2):c.2806+25330A>G rs549857802
NM_001365068.1(ASTN2):c.2806+25375G>C rs116058338
NM_001365068.1(ASTN2):c.2806+25555T>A rs144172952
NM_001365068.1(ASTN2):c.2806+25588C>A rs543534409
NM_001365068.1(ASTN2):c.2806+25784C>A rs886063381
NM_001365068.1(ASTN2):c.2806+25890G>A rs149956877
NM_001365068.1(ASTN2):c.2806+25915A>C rs868402796
NM_001365068.1(ASTN2):c.2806+25955C>T rs886063380
NM_001365068.1(ASTN2):c.2806+25983T>G rs571526516
NM_001365068.1(ASTN2):c.2806+26309C>A rs886063379
NM_001365068.1(ASTN2):c.2806+26571G>A rs141965401
NM_001365068.1(ASTN2):c.2806+26597A>C rs371002754
NM_001365068.1(ASTN2):c.2806+26643C>T rs762905941
NM_001365068.1(ASTN2):c.2806+26807G>A rs3747835
NM_001365068.1(ASTN2):c.2806+26861G>A rs754554333
NM_001365068.1(ASTN2):c.2806+27218G>A rs372298402
NM_001365068.1(ASTN2):c.2806+27259G>C rs3747834
NM_001365068.1(ASTN2):c.2806+27369C>G rs3747833
NM_001365068.1(ASTN2):c.2806+27471C>G rs117599771
NM_001365068.1(ASTN2):c.2806+27549C>T rs200196832
NM_001365068.1(ASTN2):c.2806+27620G>A rs200997003
NM_001365068.1(ASTN2):c.2806+27659G>A rs572052810
NM_001365068.1(ASTN2):c.2806+27737G>T rs201877419
NM_001365068.1(ASTN2):c.2806+27753G>A rs140589523
NM_001365068.1(ASTN2):c.2806+27960G>A rs575633576
NM_001365068.1(ASTN2):c.2806+28002C>G rs201891227
NM_001365068.1(ASTN2):c.2807-35546C>T rs752864284
NM_001365068.1(ASTN2):c.2807-35561A>G rs886063378
NM_012210.4(TRIM32):c.*1074A>T
NM_012210.4(TRIM32):c.*1152A>G
NM_012210.4(TRIM32):c.*1246T>C
NM_012210.4(TRIM32):c.*1254C>A
NM_012210.4(TRIM32):c.*1350A>C
NM_012210.4(TRIM32):c.*1354C>A
NM_012210.4(TRIM32):c.*1416A>G
NM_012210.4(TRIM32):c.*1424C>G
NM_012210.4(TRIM32):c.*206A>G
NM_012210.4(TRIM32):c.*229C>T
NM_012210.4(TRIM32):c.*250G>C
NM_012210.4(TRIM32):c.*312G>C
NM_012210.4(TRIM32):c.*371T>C
NM_012210.4(TRIM32):c.*464C>G
NM_012210.4(TRIM32):c.*530C>T
NM_012210.4(TRIM32):c.*676G>T
NM_012210.4(TRIM32):c.-143C>T
NM_012210.4(TRIM32):c.1306A>G (p.Met436Val)
NM_012210.4(TRIM32):c.1383C>T (p.Cys461=)
NM_012210.4(TRIM32):c.1573G>T (p.Gly525Cys)
NM_012210.4(TRIM32):c.1840G>A (p.Glu614Lys)
NM_012210.4(TRIM32):c.302G>A (p.Arg101Gln)
NM_012210.4(TRIM32):c.317G>A (p.Arg106His)
NM_012210.4(TRIM32):c.621A>G (p.Thr207=)
NM_012210.4(TRIM32):c.978C>T (p.Asp326=)

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