ClinVar Miner

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

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_015981.4(CAMK2A):c.158-19A>C rs891938 0.99657
NM_015028.4(TNIK):c.2331G>C (p.Ala777=) rs6444960 0.98309
NM_014806.5(RUSC2):c.217A>G (p.Thr73Ala) rs1535422 0.96071
NM_015275.3(WASHC4):c.2701G>A (p.Val901Ile) rs1663564 0.94695
NM_015981.4(CAMK2A):c.1410T>C (p.Asp470=) rs2241694 0.94205
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser) rs968733 0.91637
NM_016302.4(CRBN):c.750+32A>G rs1705789 0.91072
NM_024989.4(PGAP1):c.649+17G>A rs12693800 0.89159
NM_016302.4(CRBN):c.175-9T>C rs1669321 0.89132
NM_014026.6(DCPS):c.315G>A (p.Gln105=) rs637462 0.87290
NM_153747.2(PIGC):c.267T>C (p.Gly89=) rs2230471 0.85989
NM_006279.5(ST3GAL3):c.1038+15A>G rs3120803 0.84897
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_138775.3(ALKBH8):c.720T>C (p.Asp240=) rs645056 0.76333
NM_001543.5(NDST1):c.1662G>C (p.Thr554=) rs1290147 0.74209
NM_006721.4(ADK):c.878-71T>C rs10740443 0.69570
NM_001543.5(NDST1):c.1097-28T>C rs2545341 0.67102
NM_006618.5(KDM5B):c.2184C>T (p.Tyr728=) rs1141108 0.66577
NM_006618.5(KDM5B):c.747G>A (p.Thr249=) rs3196669 0.66570
NM_003754.3(EIF3F):c.561C>T (p.His187=) rs4758267 0.66119
NM_032808.7(LINGO1):c.714G>C (p.Leu238=) rs2271396 0.65067
NM_032808.7(LINGO1):c.474A>G (p.Leu158=) rs2271397 0.64965
NM_032808.7(LINGO1):c.465C>T (p.Ile155=) rs2271398 0.64821
NM_006618.5(KDM5B):c.1887C>T (p.His629=) rs1892164 0.60950
NM_006279.5(ST3GAL3):c.1039-18C>T rs2108202 0.59490
NM_005883.3(APC2):c.413+95T>C rs12985827 0.59265
NM_001160372.4(TRAPPC9):c.2557-13T>A rs9792174 0.57247
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) rs3735801 0.55959
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) rs3735802 0.55845
NM_015028.4(TNIK):c.63C>T (p.Pro21=) rs3796295 0.55370
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_003619.4(PRSS12):c.164G>C (p.Arg55Thr) rs13119545 0.53595
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=) rs2292597 0.53313
NM_138775.3(ALKBH8):c.878+31T>A rs589788 0.52394
NM_015028.4(TNIK):c.744C>T (p.Asn248=) rs12637875 0.50558
NM_015981.4(CAMK2A):c.1238-44G>A rs2241695 0.46240
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=) rs3735803 0.45974
NM_138775.3(ALKBH8):c.1288-3C>T rs654093 0.45699
NM_020066.5(FMN2):c.3442A>G (p.Arg1148Gly) rs12732924 0.45161
NM_153747.2(PIGC):c.796C>T (p.Pro266Ser) rs1063412 0.44041
NM_032808.7(LINGO1):c.1104C>T (p.Ser368=) rs3743481 0.43645
NM_001543.5(NDST1):c.681T>G (p.Val227=) rs2273235 0.41747
NM_020066.5(FMN2):c.1413C>A (p.Ala471=) rs10926124 0.38564
NM_014415.4(ZBTB11):c.1624-4C>T rs11712748 0.36125
NM_015981.4(CAMK2A):c.1467-4A>G rs55976097 0.35152
NM_020066.5(FMN2):c.2517C>G (p.Thr839=) rs10926166 0.34857
NM_003384.3(VRK1):c.217-244T>C rs12586511 0.34167
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_006279.5(ST3GAL3):c.209+9925A>G rs37458 0.32581
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=) rs1127446 0.32239
NM_015028.4(TNIK):c.1419+19A>G rs6444965 0.29767
NM_020066.5(FMN2):c.4403G>A (p.Arg1468His) rs3795677 0.29272
NM_001160372.4(TRAPPC9):c.1134+21A>G rs3779658 0.27421
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25976
NM_138775.3(ALKBH8):c.1030+9A>G rs12574614 0.24106
NM_015028.4(TNIK):c.2316C>T (p.Leu772=) rs2291900 0.22910
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) rs12549048 0.22639
NM_020066.5(FMN2):c.1830A>G (p.Ser610=) rs3765588 0.22473
NM_014026.6(DCPS):c.189C>T (p.Phe63=) rs695029 0.19665
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met) rs2305777 0.19038
NM_014806.5(RUSC2):c.3342-10C>T rs2295842 0.17831
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr) rs11669628 0.10133
NM_015028.4(TNIK):c.2682C>T (p.Ser894=) rs16855789 0.09929
NM_003384.3(VRK1):c.1159+43C>G rs45457797 0.08564
NM_015028.4(TNIK):c.2995G>A (p.Ala999Thr) rs17857452 0.06173
NM_016302.4(CRBN):c.735T>C (p.Tyr245=) rs17027638 0.05605
NM_020066.5(FMN2):c.3216G>A (p.Ala1072=) rs71646895 0.04951
NM_001136035.4(TRMT1):c.1106+26G>C rs35601737
NM_001160372.4(TRAPPC9):c.731-31_731-11del rs11267571
NM_001543.5(NDST1):c.1846+23G>C rs2304063
NM_001543.5(NDST1):c.750A>G (p.Pro250=) rs2273234
NM_003754.3(EIF3F):c.*24C>T rs15879
NM_005645.4(TAF13):c.-2G>A
NM_005883.3(APC2):c.4384A>C (p.Arg1462=) rs265273
NM_006618.5(KDM5B):c.2198+25dup rs3216061
NM_006618.5(KDM5B):c.3150C>G (p.Pro1050=) rs1141109
NM_015981.4(CAMK2A):c.1467-87A>T rs17712679
NM_020066.5(FMN2):c.162CGG[4] (p.Gly59del) rs71929261
NM_024824.5(ZC3H14):c.1354+15A>G rs2297124
NM_138775.3(ALKBH8):c.772-72_772-71del rs5794554

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