ClinVar Miner

Variants in gene HPS5 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_181507.2(HPS5):c.824+34A>C rs7122032 0.14035
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile) rs61755718 0.00512
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823 0.00417
NM_181507.2(HPS5):c.3217A>G (p.Met1073Val) rs116394570 0.00375
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu) rs144875223 0.00297
NM_181507.2(HPS5):c.1635-4C>G rs79009787 0.00184
NM_181507.2(HPS5):c.309A>G (p.Glu103=) rs77722090 0.00163
NM_181507.2(HPS5):c.825-16T>C rs186991064 0.00107
NM_181507.2(HPS5):c.109-10_109-9del rs557184781 0.00080
NM_181507.2(HPS5):c.582T>C (p.Leu194=) rs146455658 0.00078
NM_181507.2(HPS5):c.3229C>T (p.Arg1077Trp) rs75482179 0.00056
NM_181507.2(HPS5):c.220-9G>C rs200661298 0.00051
NM_181507.2(HPS5):c.986-5C>T rs201439984 0.00036
NM_181507.2(HPS5):c.240C>T (p.Val80=) rs138423875 0.00006
NM_181507.2(HPS5):c.958C>G (p.Gln320Glu) rs537363272 0.00001
NM_181507.2(HPS5):c.1324-21_1324-20del rs369116404
NM_181507.2(HPS5):c.981C>A (p.Val327=) rs141140267

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