ClinVar Miner

List of variants reported as likely benign for Krabbe disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.*801A>T rs114174103 0.01526
NM_002778.3(PSAP):c.-65C>T rs145948209 0.00785
NM_000153.4(GALC):c.195+10A>G rs191767015 0.00653
NM_002778.4(PSAP):c.*122C>G rs113284884 0.00572
NM_002778.4(PSAP):c.204C>T (p.Asp68=) rs143981174 0.00484
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_022124.6(CDH23):c.*361C>A rs115033851 0.00420
NM_022124.6(CDH23):c.*515C>A rs16929375 0.00385
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00368
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_001042465.2(PSAP):c.-118G>A rs28365838 0.00331
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_002778.4(PSAP):c.1380C>T (p.Pro460=) rs1049882 0.00284
NM_002778.4(PSAP):c.189C>T (p.Cys63=) rs111369573 0.00266
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137 0.00248
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594 0.00185
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_022124.6(CDH23):c.*68G>C rs527311705 0.00182
NM_022124.6(CDH23):c.*478G>C rs564392413 0.00166
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) rs144942998 0.00051
NM_002778.4(PSAP):c.-29C>T rs201780377 0.00035
NM_022124.6(CDH23):c.*141G>A rs535544696 0.00031
NM_022124.6(CDH23):c.*104G>C rs377312107 0.00029
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938 0.00016
NM_022124.6(CDH23):c.*80G>A rs75715348 0.00011
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933 0.00009
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122 0.00006
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850 0.00006
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg) rs571773332 0.00004
NM_022124.6(CDH23):c.*439C>T rs140312023 0.00001
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_002778.3(PSAP):c.-33T>C rs143987544
NM_022124.6(CDH23):c.*588del rs148667421
NM_022124.6(CDH23):c.9739-12G>A rs200638595

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