ClinVar Miner

List of variants studied for autosomal recessive non-syndromic intellectual disability by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_020066.5(FMN2):c.2897T>C (p.Leu966Pro) rs200975594 0.04768
NM_020066.5(FMN2):c.1259A>C (p.Lys420Thr) rs146681532 0.00336
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp) rs141441030 0.00045
NM_001160372.4(TRAPPC9):c.2681G>A (p.Ser894Asn) rs34181302 0.00029
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala) rs755371528 0.00004
NM_018255.4(ELP2):c.1657C>T (p.Gln553Ter) rs1400164869 0.00003
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln) rs371310428 0.00002
NM_017721.5(CC2D1A):c.2347C>T (p.Arg783Ter) rs779620838 0.00001
NM_001040616.3(LINS1):c.1815G>T (p.Met605Ile)
NM_001040616.3(LINS1):c.304del (p.Arg102fs) rs760477654
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001080510.5(METTL23):c.322+2dup
NM_001080510.5(METTL23):c.409del (p.Ala137fs)
NM_001160372.4(TRAPPC9):c.175del (p.His59fs)
NM_001160372.4(TRAPPC9):c.2892G>T (p.Lys964Asn)
NM_004830.4(MED23):c.2998C>A (p.Arg1000Ser) rs866726564
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter) rs527236036
NM_005883.3(APC2):c.1628G>A (p.Arg543Gln)
NM_005883.3(APC2):c.2651C>A (p.Pro884Gln)
NM_005883.3(APC2):c.2686C>G (p.Arg896Gly)
NM_005883.3(APC2):c.409del (p.Glu137fs)
NM_005883.3(APC2):c.6184_6193del (p.Pro2062fs)
NM_006618.5(KDM5B):c.2117del (p.Cys706fs)
NM_006618.5(KDM5B):c.326_327del (p.Lys109fs)
NM_006618.5(KDM5B):c.4605T>A (p.Cys1535Ter)
NM_014168.4(METTL5):c.406+1_406+2insATACAAATTC
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs) rs749829859
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
NM_016219.5(MAN1B1):c.1378_1394delinsAG (p.Ala460_Tyr465delinsSer)
NM_016219.5(MAN1B1):c.917-2_921del
NM_020066.5(FMN2):c.1748A>C (p.Asn583Thr)
NM_020374.4(C12orf4):c.187G>T (p.Glu63Ter)
NM_020374.4(FERRY3):c.1043_1044del (p.Thr348fs)
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs) rs1264222654
NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del) rs750035706
NM_024735.5(FBXO31):c.842+1G>A
NM_138775.3(ALKBH8):c.1968C>G (p.Asn656Lys)
NM_145886.4(PIDD1):c.277C>T (p.Arg93Cys)
NM_145886.4(PIDD1):c.296-1G>A
NM_153747.2(PIGC):c.484A>T (p.Ile162Phe)
NM_153747.2(PIGC):c.881G>T (p.Arg294Met)

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