ClinVar Miner

List of variants reported as likely pathogenic for Marfanoid habitus and intellectual disability

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000701.8(ATP1A1):c.998C>G (p.Pro333Arg) rs1401759980
NM_001005273.3(CHD3):c.3477C>A (p.Asn1159Lys) rs754919272
NM_001040142.2(SCN2A):c.5641G>T (p.Glu1881Ter) rs1553463775
NM_001170629.2(CHD8):c.3338del (p.Arg1113fs) rs1594344768
NM_001190274.2(FBXO11):c.1042-1G>C rs1572806589
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu) rs1554709662
NM_001321075.3(DLG4):c.1018_1025del (p.Phe340fs) rs1597453595
NM_001321075.3(DLG4):c.1543+2T>C rs1597444614
NM_001321075.3(DLG4):c.1714del (p.Glu572fs) rs1597442444
NM_001348800.3(ZBTB20):c.1862T>C (p.Leu621Pro) rs1576220750
NM_001356.5(DDX3X):c.147del (p.Gly51fs) rs1602122237
NM_001365902.3(NFIX):c.337A>G (p.Lys113Glu) rs1555696597
NM_001365902.3(NFIX):c.344G>A (p.Arg115Gln) rs1599738398
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs) rs1583513256
NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr) rs1583516082
NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter) rs1135401825
NM_001999.4(FBN2):c.4154T>C (p.Leu1385Pro) rs1581222106
NM_002501.3(NFIX):c.[346C>T;348G>A]
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_004606.5(TAF1):c.4489A>C (p.Asn1497His) rs1602624914
NM_004975.4(KCNB1):c.1240A>G (p.Asn414Asp) rs1601071071
NM_006593.4(TBR1):c.896G>A (p.Trp299Ter) rs1553510385
NM_014795.4(ZEB2):c.3067G>A (p.Gly1023Arg) rs1573713430
NM_014795.4(ZEB2):c.3098del (p.Lys1033fs) rs1573708180
NM_015335.5(MED13L):c.3942_3943del (p.Ile1315fs) rs1555244212
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022893.4(BCL11A):c.193G>T (p.Glu65Ter) rs1553353022
NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter) rs1588553447
NM_024757.5(EHMT1):c.2608-1G>C rs1588784791
NM_030632.3(ASXL3):c.3613G>T (p.Glu1205Ter) rs1599571722
NM_205768.3(ZBTB18):c.1301T>C (p.Leu434Pro) rs1553270599
Single allele

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