ClinVar Miner

List of variants in gene HPS5 reported by Preventiongenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047 0.72384
NM_181507.2(HPS5):c.2440+36C>T rs4757638 0.58900
NM_181507.2(HPS5):c.1511-30G>A rs2305565 0.58312
NM_181507.2(HPS5):c.3058+9A>G rs2049129 0.20713
NM_181507.2(HPS5):c.824+34A>C rs7122032 0.14035
NM_181507.2(HPS5):c.1165-15C>A rs7128146 0.13983
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met) rs7128017 0.13791
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_181507.2(HPS5):c.1785-13C>T rs73430857 0.02128
NM_181507.2(HPS5):c.139T>C (p.Leu47=) rs73432728 0.02127
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile) rs61755718 0.00512
NM_181507.2(HPS5):c.1635-4C>G rs79009787 0.00184
NM_181507.2(HPS5):c.825-16T>C rs186991064 0.00107
NM_181507.2(HPS5):c.986-5C>T rs201439984 0.00036
NM_181507.2(HPS5):c.*5A>G rs368130502 0.00001
NM_181507.2(HPS5):c.1862+17A>C rs111497919
NM_181507.2(HPS5):c.2168T>C (p.Ile723Thr)
NM_181507.2(HPS5):c.2375del (p.Glu792fs)
NM_181507.2(HPS5):c.2952-1G>C
NM_181507.2(HPS5):c.478-18T>G rs886038752
NM_181507.2(HPS5):c.760G>T (p.Val254Phe)

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