ClinVar Miner

List of variants reported as likely benign for autosomal recessive non-syndromic intellectual disability by Illumina Laboratory Services, Illumina

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_003619.4(PRSS12):c.*1504G>A rs1045817 0.11039
NM_003619.4(PRSS12):c.*807G>A rs17516164 0.06175
NM_001160372.4(TRAPPC9):c.3279+4C>T rs79877357 0.02434
NM_003619.4(PRSS12):c.*208C>T rs142775631 0.01464
NM_003619.4(PRSS12):c.1773C>T (p.His591=) rs34131974 0.00712
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile) rs112951498 0.00574
NM_016219.5(MAN1B1):c.*223G>A rs141959719 0.00488
NM_003619.4(PRSS12):c.51A>G (p.Glu17=) rs144853134 0.00447
NM_016219.5(MAN1B1):c.1566+14C>T rs201606936 0.00440
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152 0.00371
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln) rs140673211 0.00371
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_016042.4(EXOSC3):c.*881A>G rs143319153 0.00332
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln) rs149339002 0.00309
NM_006721.4(ADK):c.*740C>T rs150465356 0.00276
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser) rs145151396 0.00273
NM_006721.4(ADK):c.66-24106T>C rs192064997 0.00255
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile) rs62640002 0.00231
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=) rs138435910 0.00230
NM_003619.4(PRSS12):c.440C>T (p.Pro147Leu) rs72903215 0.00212
NM_016042.4(EXOSC3):c.*64C>T rs142727320 0.00209
NM_006721.4(ADK):c.*375A>G rs185021662 0.00206
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_016219.5(MAN1B1):c.*393A>G rs575316488 0.00170
NM_017755.6(NSUN2):c.*17G>A rs201903423 0.00160
NM_017755.6(NSUN2):c.222C>T (p.Leu74=) rs138716662 0.00159
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly) rs114878910 0.00125
NM_006721.4(ADK):c.1088G>A (p.Ter363=) rs148819558 0.00108
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg) rs149244771 0.00051
NM_003619.4(PRSS12):c.*764A>G rs11098431 0.00041
NM_016219.5(MAN1B1):c.*292G>A rs145815566 0.00034
NM_016219.5(MAN1B1):c.717A>G (p.Thr239=) rs112434939 0.00026
NM_003619.4(PRSS12):c.*1865T>C rs183712097 0.00023
NM_016219.5(MAN1B1):c.621-5C>T rs200585294 0.00009
NM_016219.5(MAN1B1):c.1445+10G>A rs200441545 0.00006
NM_001160372.4(TRAPPC9):c.2811-4G>A rs374826041 0.00004
NM_003619.4(PRSS12):c.-10C>T rs559605488 0.00001
NM_006721.4(ADK):c.66-24289G>A rs571962706 0.00001
NM_017755.6(NSUN2):c.997G>A (p.Ala333Thr) rs564938323

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