ClinVar Miner

List of variants in gene SETD5 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001080517.3(SETD5):c.2103+77T>C rs2258735 0.94794
NM_001080517.3(SETD5):c.2347-38A>G rs2648580 0.65124
NM_001080517.3(SETD5):c.2347-304C>A rs3898760 0.26643
NM_001080517.3(SETD5):c.3196-64G>A rs3915844 0.25205
NM_001080517.3(SETD5):c.2725-168G>A rs62246320 0.07508
NM_001080517.3(SETD5):c.3923C>T (p.Thr1308Ile) rs11542009 0.07482
NM_001080517.3(SETD5):c.1783-30G>A rs200418836 0.07310
NM_001080517.3(SETD5):c.1440+164T>C rs2290164 0.07233
NM_001080517.3(SETD5):c.1188-229G>A rs6803966 0.07227
NM_001080517.3(SETD5):c.1078-310C>G rs112573190 0.06586
NM_001080517.3(SETD5):c.4131C>T (p.Asn1377=) rs17747739 0.03956
NM_001080517.3(SETD5):c.3632-166T>C rs17050385 0.03808
NM_001080517.3(SETD5):c.1783-159dup rs1318240316 0.03108
NM_001080517.3(SETD5):c.1783-181_1783-161del rs530645975 0.03102
NM_001080517.3(SETD5):c.1188-39G>T rs6804149 0.02829
NM_001080517.3(SETD5):c.3330T>C (p.Thr1110=) rs73026975 0.02414
NM_001080517.3(SETD5):c.3564C>T (p.Ser1188=) rs6779961 0.02149
NM_001080517.3(SETD5):c.3631+74G>A rs115699611 0.01978
NM_001080517.3(SETD5):c.849G>A (p.Arg283=) rs17050347 0.00987
NM_001080517.3(SETD5):c.3409A>G (p.Met1137Val) rs13327456 0.00812
NM_001080517.3(SETD5):c.230G>A (p.Arg77His) rs41387348 0.00592
NM_001080517.3(SETD5):c.4115C>T (p.Thr1372Ile) rs62246321 0.00247
NM_001080517.3(SETD5):c.1187+35C>T rs185957226 0.00230
NM_001080517.3(SETD5):c.2346+38G>T rs187073560 0.00165
NM_001080517.3(SETD5):c.960-47C>T rs116834487 0.00148
NM_001080517.3(SETD5):c.3196-8C>T rs373633825 0.00126
NM_001080517.3(SETD5):c.1515T>C (p.His505=) rs117265865 0.00125
NM_001080517.3(SETD5):c.2347-14C>T rs200975171 0.00104
NM_001080517.3(SETD5):c.2927C>G (p.Ala976Gly) rs138685269 0.00090
NM_001080517.3(SETD5):c.1078-73G>C rs560696047 0.00082
NM_001080517.3(SETD5):c.2653T>C (p.Tyr885His) rs117354149 0.00075
NM_001080517.3(SETD5):c.3196-24G>T rs768648060 0.00071
NM_001080517.3(SETD5):c.3195+49G>A rs73130125 0.00070
NM_001080517.3(SETD5):c.3196-16G>T rs761850219 0.00056
NM_001080517.3(SETD5):c.2476+4C>T rs371030587 0.00045
NM_001080517.3(SETD5):c.959+9G>A rs145218854 0.00035
NM_001080517.3(SETD5):c.567+34G>A rs370696878 0.00023
NM_001080517.3(SETD5):c.3829A>G (p.Thr1277Ala) rs531968885 0.00017
NM_001080517.3(SETD5):c.3341G>A (p.Gly1114Asp) rs201189533 0.00016
NM_001080517.3(SETD5):c.960-37G>A rs373249407 0.00011
NM_001080517.3(SETD5):c.3338A>G (p.His1113Arg) rs200143538 0.00009
NM_001080517.3(SETD5):c.1440+62G>A rs746636897 0.00008
NM_001080517.3(SETD5):c.3325G>A (p.Asp1109Asn) rs527600519 0.00007
NM_001080517.3(SETD5):c.567+992A>G rs533021669 0.00006
NM_001080517.3(SETD5):c.4065G>A (p.Ser1355=) rs554246026 0.00004
NM_001080517.3(SETD5):c.123C>A (p.Ser41=) rs548352059 0.00003
NM_001080517.3(SETD5):c.4215A>G (p.Val1405=) rs183053371 0.00002
NM_001080517.3(SETD5):c.567+931C>T rs181644555 0.00002
NM_001080517.3(SETD5):c.1187+223_1187+224del rs77785239
NM_001080517.3(SETD5):c.1524+226T>G rs58773270
NM_001080517.3(SETD5):c.1783-34_1783-31dup rs3217597
NM_001080517.3(SETD5):c.1910A>C (p.Asn637Thr) rs201561587
NM_001080517.3(SETD5):c.3894C>A (p.Ser1298=) rs535076039
NM_001080517.3(SETD5):c.3929C>T (p.Ser1310Leu) rs201582360
NM_001080517.3(SETD5):c.811-225del rs375612987

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