ClinVar Miner

List of variants reported as likely pathogenic for Rare genetic intellectual disability

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Total variants: 35
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HGVS dbSNP
NM_001080517.3(SETD5):c.2552del (p.Leu851fs)
NM_001080517.3(SETD5):c.977del (p.Leu326fs)
NM_001170629.2(CHD8):c.5736del (p.Leu1912fs)
NM_001197104.2(KMT2A):c.3515dup (p.Asn1172fs)
NM_001349338.3(FOXP1):c.1321_1324del (p.Asp441fs)
NM_001356.5(DDX3X):c.1424G>T (p.Arg475Leu)
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
NM_001374828.1(ARID1B):c.6895del (p.Gln2299fs)
NM_001429.4(EP300):c.4337A>G (p.Tyr1446Cys)
NM_003482.4(KMT2D):c.15284G>C (p.Cys5095Ser)
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs) rs1602163752
NM_004380.3(CREBBP):c.5224A>G (p.Met1742Val)
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter) rs886041518
NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter)
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) rs1064793286
NM_006662.3(SRCAP):c.7466C>G (p.Ser2489Ter)
NM_006852.6(TLK2):c.997G>T (p.Glu333Ter)
NM_013275.6(ANKRD11):c.3369_3372del (p.Ser1123fs)
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.6152dup (p.Glu2052fs)
NM_014727.3(KMT2B):c.3565_3566dup (p.Leu1190fs)
NM_015335.4(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_015335.5(MED13L):c.1162_1166del (p.Arg388fs)
NM_015335.5(MED13L):c.4358A>C (p.His1453Pro)
NM_015335.5(MED13L):c.987del (p.Ser330fs)
NM_016628.5(WAC):c.451C>T (p.Arg151Ter) rs886041614
NM_017635.5(KMT5B):c.2095C>T (p.Arg699Ter)
NM_017934.7(PHIP):c.2854C>T (p.Arg952Ter)
NM_022552.5(DNMT3A):c.1668G>C (p.Arg556Ser)
NM_030665.4(RAI1):c.4545del (p.Cys1516fs)
NM_032682.6(FOXP1):c.1630C>T (p.Arg544Ter) rs1559602356
NM_133443.4(GPT2):c.269del (p.Val90fs)
NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs)
NM_173495.3(PTCHD1):c.928G>C (p.Ala310Pro)
NM_198525.3(KIF7):c.3016del (p.Glu1006fs)

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