ClinVar Miner

List of variants reported as benign for autosomal dominant non-syndromic intellectual disability by Genome-Nilou Lab

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001220.5(CAMK2B):c.*2+97dup rs138799733 1.00000
NM_001220.5(CAMK2B):c.1176+106dup rs5883896 1.00000
NM_015981.4(CAMK2A):c.158-19A>C rs891938 0.99657
NM_005121.3(MED13):c.4320C>T (p.Asp1440=) rs671347 0.99338
NM_006734.4(HIVEP2):c.4613T>C (p.Leu1538Pro) rs109836 0.97172
NM_018489.3(ASH1L):c.5311A>G (p.Thr1771Ala) rs4971053 0.95641
NM_138459.5(NUS1):c.-16T>C rs9767451 0.94753
NM_015981.4(CAMK2A):c.1410T>C (p.Asp470=) rs2241694 0.94205
NM_018489.3(ASH1L):c.8293+58A>G rs4971051 0.93536
NM_007118.4(TRIO):c.5100A>C (p.Thr1700=) rs30612 0.88742
NM_004859.4(CLTC):c.2293-26T>C rs8065248 0.88365
NM_003011.4(SET):c.493-14C>T rs4836618 0.86614
NM_003011.4(SET):c.132-17C>T rs3750330 0.86565
NM_004859.4(CLTC):c.519+16T>G rs8071749 0.85772
NM_001348323.3(TRIP12):c.2651-25C>T rs4972915 0.81767
NM_006734.4(HIVEP2):c.6885A>G (p.Pro2295=) rs169098 0.70641
NM_019842.4(KCNQ5):c.123C>G (p.Ser41=) rs3734212 0.56776
NM_001367534.1(CAMK2G):c.696+102_696+103insA rs3214931 0.55999
NM_007118.4(TRIO):c.5497-48C>T rs27100 0.52401
NM_004068.4(AP2M1):c.1173+73T>C rs843365 0.50341
NM_006852.6(TLK2):c.1872A>G (p.Pro624=) rs8078132 0.49542
NM_001367534.1(CAMK2G):c.275+69A>G rs2250140 0.47400
NM_001220.5(CAMK2B):c.1597+38C>T rs10951758 0.47114
NM_015981.4(CAMK2A):c.1238-44G>A rs2241695 0.46240
NM_007118.4(TRIO):c.541-20G>A rs30629 0.44690
NM_001367534.1(CAMK2G):c.161-110A>G rs2664282 0.43889
NM_001367534.1(CAMK2G):c.147G>A (p.Lys49=) rs2675671 0.43799
NM_007118.4(TRIO):c.4398T>C (p.Asp1466=) rs30774 0.42642
NM_004068.4(AP2M1):c.75-4T>C rs2231216 0.40359
NM_001348323.3(TRIP12):c.2736A>G (p.Thr912=) rs13018957 0.38821
NM_001348323.3(TRIP12):c.2651-39A>C rs4973229 0.38648
NM_005862.3(STAG1):c.2457C>T (p.Phe819=) rs9860801 0.37660
NM_001348323.3(TRIP12):c.3482+15G>A rs6720868 0.36718
NM_001220.5(CAMK2B):c.1956C>T (p.Asn652=) rs1065359 0.35835
NM_015981.4(CAMK2A):c.1467-4A>G rs55976097 0.35152
NM_001220.5(CAMK2B):c.820-93A>T rs2075073 0.33981
NM_001220.5(CAMK2B):c.819+115T>C rs35663812 0.33921
NM_007118.4(TRIO):c.4311+44G>A rs256412 0.31735
NM_001321075.3(DLG4):c.1167C>T (p.Ile389=) rs17203281 0.28275
NM_001220.5(CAMK2B):c.573T>C (p.Tyr191=) rs11542227 0.27378
NM_007118.4(TRIO):c.3033C>T (p.Asn1011=) rs13189406 0.22131
NM_004068.4(AP2M1):c.960C>T (p.Ile320=) rs8478 0.18694
NM_007118.4(TRIO):c.5203+20G>A rs56207939 0.17811
NM_005121.3(MED13):c.470+23G>A rs4968467 0.15578
NM_004068.4(AP2M1):c.1185G>A (p.Ala395=) rs2231224 0.11262
NM_024665.7(TBL1XR1):c.1416+25C>G rs16827730 0.10956
NM_007118.4(TRIO):c.4020C>T (p.Ile1340=) rs7715916 0.10797
NM_007118.4(TRIO):c.3882-36C>G rs11949756 0.10757
NM_007118.4(TRIO):c.3332-33C>T rs10866507 0.10407
NM_004068.4(AP2M1):c.707+56G>T rs2231220 0.02498
NM_018489.3(ASH1L):c.1318T>G (p.Cys440Gly) rs114218266 0.02209
NM_007118.4(TRIO):c.5523C>T (p.Ser1841=) rs17500731 0.01857
NM_007118.4(TRIO):c.6154-47G>A rs62345860 0.01662
NM_004068.4(AP2M1):c.565+17G>A rs2231219 0.01250
NM_018489.3(ASH1L):c.4200C>T (p.Tyr1400=) rs112530764 0.01179
NM_007118.4(TRIO):c.5496+34G>A rs62345056 0.00304
NM_001220.5(CAMK2B):c.*2+103dup rs149624128
NM_001220.5(CAMK2B):c.1791G>A (p.Pro597=) rs1127065
NM_001220.5(CAMK2B):c.582T>C (p.Pro194=) rs11542228
NM_001348323.3(TRIP12):c.1133+21del rs11373804
NM_001367534.1(CAMK2G):c.696+49del rs67135801
NM_004068.4(AP2M1):c.340+56G>A rs2231217
NM_015981.4(CAMK2A):c.1467-87A>T rs17712679
NM_017635.5(KMT5B):c.544-19dup rs3832715
NM_019842.4(KCNQ5):c.204C>T (p.Leu68=) rs34821312

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