ClinVar Miner

List of variants in gene combination C10orf55, PLAU reported as benign for alpha granule disease

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002658.6(PLAU):c.*141C>T rs4065 0.51476
NM_002658.6(PLAU):c.*844del rs2227574 0.50929
NM_002658.6(PLAU):c.172G>A (p.Gly58Arg) rs55744193 0.00504
NM_002658.6(PLAU):c.1092C>T (p.Asp364=) rs148333167 0.00419
NM_002658.6(PLAU):c.*444T>A rs145634997 0.00312
NM_002658.6(PLAU):c.*60A>C rs142117323 0.00177
NM_002658.6(PLAU):c.162A>G (p.Pro54=) rs142059320 0.00165
NM_002658.6(PLAU):c.*520G>T rs117134857 0.00143
NM_002658.6(PLAU):c.878G>A (p.Arg293Gln) rs546931331 0.00068
NM_002658.6(PLAU):c.*355C>T rs140559980 0.00056
NM_002658.6(PLAU):c.*335G>A rs185909762 0.00038
NM_002658.6(PLAU):c.1222G>A (p.Val408Ile) rs200165551 0.00031
NM_002658.6(PLAU):c.236G>A (p.Arg79Gln) rs201299522 0.00022
NM_002658.6(PLAU):c.111A>G (p.Gly37=) rs200927138 0.00009
NM_002658.6(PLAU):c.*266T>C rs565576288 0.00008
NM_002658.6(PLAU):c.972C>T (p.Thr324=) rs375950656 0.00008
NM_002658.6(PLAU):c.*52T>A rs560674195 0.00004
NM_002658.6(PLAU):c.1053C>T (p.Tyr351=) rs558920700 0.00003
NM_002658.6(PLAU):c.1193G>T (p.Arg398Leu) rs3805118 0.00003
NM_002658.6(PLAU):c.163A>G (p.Lys55Glu) rs147372618 0.00003
NM_002658.6(PLAU):c.*398C>T rs190769030
NM_002658.6(PLAU):c.1048T>C (p.Tyr350His) rs72816325
NM_002658.6(PLAU):c.830-13T>C rs376665535

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