ClinVar Miner

List of variants in gene HPS5 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_181507.2(HPS5):c.824+34A>C rs7122032 0.14035
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile) rs61755718 0.00512
NM_181507.2(HPS5):c.309A>G (p.Glu103=) rs77722090 0.00163
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184 0.00144
NM_181507.2(HPS5):c.825-16T>C rs186991064 0.00107
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr) rs147053126 0.00102
NM_181507.2(HPS5):c.582T>C (p.Leu194=) rs146455658 0.00078
NM_181507.2(HPS5):c.2182G>A (p.Ala728Thr) rs150487992 0.00053
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His) rs147430035 0.00047
NM_181507.2(HPS5):c.986-5C>T rs201439984 0.00036
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys) rs200704721 0.00007
NM_181507.2(HPS5):c.3041T>A (p.Leu1014Gln) rs181682094 0.00004
NM_181507.2(HPS5):c.*5A>G rs368130502 0.00001
NM_181507.2(HPS5):c.1107A>G (p.Leu369=) rs751923169 0.00001
NM_181507.2(HPS5):c.3259C>T (p.Leu1087=) rs868410563 0.00001
NM_181507.2(HPS5):c.958C>G (p.Gln320Glu) rs537363272 0.00001
NM_181507.2(HPS5):c.240C>A (p.Val80=) rs138423875
NM_181507.2(HPS5):c.3018T>C (p.Ile1006=) rs1455639945
NM_181507.2(HPS5):c.478-18T>G rs886038752
NM_181507.2(HPS5):c.597G>A (p.Leu199=)

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