ClinVar Miner

List of variants reported as benign for Pitt-Hopkins-like syndrome by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_014141.6(CNTNAP2):c.551-11_551-10insG rs35167289 0.42413
NM_014141.6(CNTNAP2):c.3381+17A>C rs3779032 0.39925
NM_001330078.2(NRXN1):c.3364+20T>C rs3213756 0.25608
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127 0.20355
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031 0.18203
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169 0.17471
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874 0.17452
NM_001330078.2(NRXN1):c.*110G>A rs1045881 0.14719
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_014141.6(CNTNAP2):c.2099-15T>C rs75858942 0.04429
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128 0.03626
NM_014141.6(CNTNAP2):c.3476-15C>A rs77706740 0.02606
NC_000007.14:g.146116001A>G rs34712024 0.02519
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576 0.01899
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298 0.01844
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853 0.01773
NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=) rs74714098 0.01437
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849 0.01075
NM_014141.6(CNTNAP2):c.1119G>A (p.Thr373=) rs73471053 0.00970
NM_001330078.2(NRXN1):c.4217-16A>C rs74520052 0.00964
NM_014141.6(CNTNAP2):c.834T>C (p.Ser278=) rs61732854 0.00910
NM_001330078.2(NRXN1):c.772+1140G>A rs61658382 0.00837
NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=) rs79039458 0.00749
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) rs80094872 0.00737
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292 0.00609
NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=) rs116236999 0.00578
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867 0.00548
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=) rs115211871 0.00535
NM_001330078.2(NRXN1):c.2143+19A>G rs150513096 0.00534
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_001330078.2(NRXN1):c.1760-16C>T rs79422704 0.00472
NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=) rs78543192 0.00454
NM_014141.6(CNTNAP2):c.3382-7C>T rs189589051 0.00454
NM_014141.6(CNTNAP2):c.3675G>A (p.Ser1225=) rs142331907 0.00417
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283 0.00340
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020 0.00330
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=) rs77789547 0.00300
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670 0.00264
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693 0.00253
NM_014141.6(CNTNAP2):c.551-15_551-14insG rs201428458 0.00247
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073 0.00236
NM_014141.6(CNTNAP2):c.551-11T>G rs78223661 0.00210
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721 0.00191
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237 0.00166
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) rs201941844 0.00155
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561 0.00145
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=) rs201592993 0.00135
NM_014141.6(CNTNAP2):c.3247+16C>T rs370512570 0.00124
NM_014141.6(CNTNAP2):c.3011-11C>T rs201397443 0.00097
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349 0.00096
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) rs200182626 0.00083
NM_014141.6(CNTNAP2):c.2205C>A (p.Asn735Lys) rs200610099 0.00071
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) rs200074974 0.00062
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) rs55640811 0.00059
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654 0.00029
NM_014141.6(CNTNAP2):c.2895C>A (p.Gly965=) rs75688908 0.00028
NM_001330078.2(NRXN1):c.2347+18C>A rs150460414 0.00016
NM_001330078.2(NRXN1):c.821-4A>G rs768708962 0.00009
NM_001330078.2(NRXN1):c.1833T>C (p.Asp611=) rs190377845 0.00006
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520 0.00006
NM_001330078.2(NRXN1):c.2313A>G (p.Leu771=) rs779330397 0.00005
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=) rs563089155 0.00005
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_001330078.2(NRXN1):c.3403A>G (p.Ile1135Val) rs765360600 0.00003
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698 0.00003
NM_014141.6(CNTNAP2):c.1998C>T (p.Ser666=) rs759797092 0.00003
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) rs201485014 0.00001
NM_014141.6(CNTNAP2):c.402+13C>A rs532060379 0.00001
NM_001330078.2(NRXN1):c.1135-13dup
NM_001330078.2(NRXN1):c.1760-11C>G rs199550097
NM_001330078.2(NRXN1):c.1843C>T (p.Leu615=) rs201029409
NM_001330078.2(NRXN1):c.2348-13C>A
NM_001330078.2(NRXN1):c.3547-14dup
NM_001330078.2(NRXN1):c.3547-18dup rs749772679
NM_001330078.2(NRXN1):c.4216+17T>A rs200836763
NM_001330078.2(NRXN1):c.4216+17del rs2104381080
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=) rs535454043
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.3476-9_3476-8del
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014141.6(CNTNAP2):c.3716-5_3716-4insGT rs60451214
NM_014141.6(CNTNAP2):c.3716-7_3716-6insTT rs72268642
NM_014141.6(CNTNAP2):c.551-8del rs370377093
NM_014141.6(CNTNAP2):c.551-8dup rs370377093
NM_014141.6(CNTNAP2):c.98-19_98-16del rs796052367

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.