ClinVar Miner

List of variants in gene HPS5 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_181507.2(HPS5):c.825-284G>C rs11024616 0.86888
NM_181507.2(HPS5):c.825-279T>C rs10832917 0.72536
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047 0.72384
NM_181507.2(HPS5):c.2441-140T>C rs1520884 0.72291
NM_181507.2(HPS5):c.2440+36C>T rs4757638 0.58900
NM_181507.2(HPS5):c.896+211G>A rs11024614 0.58336
NM_181507.2(HPS5):c.1511-30G>A rs2305565 0.58312
NM_181507.2(HPS5):c.1165-295T>C rs11024608 0.58268
NM_181507.2(HPS5):c.3330-116A>G rs11024601 0.48995
NM_181507.2(HPS5):c.1634+88A>T rs2305564 0.47475
NM_181507.2(HPS5):c.3329+93G>A rs2271997 0.41241
NM_181507.2(HPS5):c.1511-195G>T rs11024606 0.40394
NM_181507.2(HPS5):c.220-63A>T rs11024618 0.39626
NM_181507.2(HPS5):c.*464C>A rs1046611 0.35745
NM_181507.2(HPS5):c.*475C>T rs1046615 0.33956
NM_181507.2(HPS5):c.*299C>T rs12419588 0.33793
NM_181507.2(HPS5):c.*300T>C rs12416821 0.33782
NM_181507.2(HPS5):c.3058+9A>G rs2049129 0.20713
NM_181507.2(HPS5):c.2952-309C>G rs12291480 0.17275
NM_181507.2(HPS5):c.*804C>T rs1046628 0.17195
NM_181507.2(HPS5):c.824+34A>C rs7122032 0.14035
NM_181507.2(HPS5):c.284+210G>T rs12224608 0.14019
NM_181507.2(HPS5):c.219+214C>T rs11024619 0.14013
NM_181507.2(HPS5):c.896+260C>G rs1869787 0.13993
NM_181507.2(HPS5):c.896+257C>T rs1869786 0.13992
NM_181507.2(HPS5):c.986-183C>T rs78796396 0.13990
NM_181507.2(HPS5):c.1165-15C>A rs7128146 0.13983
NM_181507.2(HPS5):c.1510+58C>T rs11024607 0.13972
NM_181507.2(HPS5):c.1784+254G>A rs4757639 0.13971
NM_181507.2(HPS5):c.825-208G>A rs11024615 0.13956
NM_181507.2(HPS5):c.1784+138C>T rs73430866 0.13952
NM_181507.2(HPS5):c.1784+147A>G rs73430865 0.13937
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met) rs7128017 0.13791
NM_181507.2(HPS5):c.2837+57G>T rs80080323 0.07045
NM_181507.2(HPS5):c.220-60T>A rs202173667 0.06546
NM_181507.2(HPS5):c.284+27T>G rs112856435 0.03674
NM_181507.2(HPS5):c.219+25T>A rs78237997 0.03527
NM_181507.2(HPS5):c.2838-39A>G rs77099432 0.03368
NM_181507.2(HPS5):c.824+199C>T rs113870311 0.03118
NM_181507.2(HPS5):c.1863-171A>C rs2124373 0.03116
NM_181507.2(HPS5):c.825-82A>C rs7943008 0.03013
NM_181507.2(HPS5):c.*1068T>A rs112456564 0.02934
NM_181507.2(HPS5):c.*443T>A rs74602396 0.02922
NM_181507.2(HPS5):c.824+161G>A rs112097249 0.02844
NM_181507.2(HPS5):c.219+181T>C rs113754587 0.02841
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_181507.2(HPS5):c.896+144G>A rs57697727 0.02433
NM_181507.2(HPS5):c.986-40T>G rs59599668 0.02429
NM_181507.2(HPS5):c.1784+318A>G rs7127420 0.02326
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.*702A>T rs79086536 0.01805
NM_181507.2(HPS5):c.1785-229del rs200028063 0.00842
NM_181507.2(HPS5):c.2440+51T>C rs7110937 0.00813
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_181507.2(HPS5):c.1165-20T>C rs116858625 0.00638
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.1476G>A (p.Leu492=) rs114305629 0.00285
NM_181507.2(HPS5):c.1609G>T (p.Val537Leu) rs149677540 0.00276
NM_181507.2(HPS5):c.1635-4C>G rs79009787 0.00184
NM_181507.2(HPS5):c.2109T>C (p.Asp703=) rs144280811 0.00118
NM_181507.2(HPS5):c.2562-14G>C rs199999276 0.00107
NM_181507.2(HPS5):c.825-16T>C rs186991064 0.00107
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.986-5C>T rs201439984 0.00036
NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys) rs143204089 0.00019
NM_181507.2(HPS5):c.1323+17T>A rs765417786 0.00006
NM_181507.2(HPS5):c.958C>G (p.Gln320Glu) rs537363272 0.00001
NM_181507.2(HPS5):c.1164+187C>A rs11024609
NM_181507.2(HPS5):c.1165-6del
NM_181507.2(HPS5):c.1324-20del rs369116404
NM_181507.2(HPS5):c.1324-21_1324-20del rs369116404
NM_181507.2(HPS5):c.1324-32dup rs369116404
NM_181507.2(HPS5):c.1511-19del
NM_181507.2(HPS5):c.1511-19dup
NM_181507.2(HPS5):c.1784+178dup rs202244956
NM_181507.2(HPS5):c.1785-15del
NM_181507.2(HPS5):c.1785-63_1785-62dup rs10665418
NM_181507.2(HPS5):c.1862+17A>C rs111497919
NM_181507.2(HPS5):c.1863-191del rs5790031
NM_181507.2(HPS5):c.220-62AAT[7] rs59102347
NM_181507.2(HPS5):c.220-63_220-62insT rs1554944920
NM_181507.2(HPS5):c.220-64_220-63insT rs2133859854
NM_181507.2(HPS5):c.220-77_220-75dup rs11376847
NM_181507.2(HPS5):c.220-77_220-76dup rs11376847
NM_181507.2(HPS5):c.220-77dup rs11376847
NM_181507.2(HPS5):c.2205C>T (p.Asn735=)
NM_181507.2(HPS5):c.2441-157_2441-155del rs56697624
NM_181507.2(HPS5):c.2718-18dup rs766581269
NM_181507.2(HPS5):c.2718-211dup rs371993799
NM_181507.2(HPS5):c.2837+39dup rs370679561
NM_181507.2(HPS5):c.2837+44T>G rs60183714
NM_181507.2(HPS5):c.2837+98C>A rs56767044
NM_181507.2(HPS5):c.2951+188dup rs532196282
NM_181507.2(HPS5):c.3059-223dup rs200407814
NM_181507.2(HPS5):c.611+100dup rs35952141
NM_181507.2(HPS5):c.615A>G (p.Glu205=) rs772600215
NM_181507.2(HPS5):c.824+205_824+206insGGTGG rs146775168
NM_181507.2(HPS5):c.824+257G>A rs73432712
NM_181507.2(HPS5):c.825-240del rs11345742
NM_181507.2(HPS5):c.981C>A (p.Val327=) rs141140267
NM_181507.2(HPS5):c.985+127_985+131del rs531315010
NM_181507.2(HPS5):c.985+128_985+131del rs531315010
NM_181507.2(HPS5):c.985+129_985+131del rs531315010

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