ClinVar Miner

List of variants reported as likely benign for autosomal recessive distal spinal muscular atrophy 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425 0.00247
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202 0.00187
NM_002180.3(IGHMBP2):c.*175T>C rs189725711 0.00166
NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr) rs2228208 0.00157
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=) rs147918962 0.00105
NM_002180.3(IGHMBP2):c.2467C>T (p.Arg823Cys) rs192806153 0.00014
NM_002180.3(IGHMBP2):c.*860G>A rs149898985 0.00013
NM_002180.3(IGHMBP2):c.*417C>A rs117542830 0.00009
NM_002180.3(IGHMBP2):c.2883G>A (p.Leu961=) rs3750977 0.00004
NM_002180.3(IGHMBP2):c.*524T>C rs192025232
NM_002180.3(IGHMBP2):c.*648G>A rs139118510
NM_002180.3(IGHMBP2):c.*729G>A rs191714559
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=) rs149185954

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