ClinVar Miner

List of variants studied for syndromic intellectual disability by Genome Medicine, Institute for Basic Research in Developmental Disabilities

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_004606.5(TAF1):c.1237G>A (p.Asp413Asn) rs367907623 0.00009
NM_004606.5(TAF1):c.5599A>T (p.Ser1867Cys) rs753892104 0.00002
NM_004606.5(TAF1):c.4130G>A (p.Arg1377Gln) rs748747814 0.00001
NM_004606.5(TAF1):c.802C>T (p.Arg268Cys) rs1399230018 0.00001
NM_004606.5(TAF1):c.1188TCT[1] (p.Leu398del) rs1602468194
NM_004606.5(TAF1):c.1454T>A (p.Ile485Asn) rs2148276174
NM_004606.5(TAF1):c.1520A>G (p.Asp507Gly) rs1602481623
NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser) rs864321630
NM_004606.5(TAF1):c.1765A>G (p.Ile589Val) rs1602485648
NM_004606.5(TAF1):c.1979G>A (p.Gly660Asp) rs1602489684
NM_004606.5(TAF1):c.2120G>C (p.Arg707Pro) rs1602490113
NM_004606.5(TAF1):c.2305A>G (p.Arg769Gly) rs1602500103
NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg) rs864321628
NM_004606.5(TAF1):c.2557T>G (p.Phe853Val) rs1602504701
NM_004606.5(TAF1):c.2608C>T (p.Arg870Cys) rs1602506017
NM_004606.5(TAF1):c.2773G>A (p.Asp925Asn) rs1555971253
NM_004606.5(TAF1):c.2866G>C (p.Asp956His) rs864321631
NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe) rs1057518019
NM_004606.5(TAF1):c.2975C>T (p.Thr992Ile) rs1602520317
NM_004606.5(TAF1):c.3508C>T (p.Arg1170Cys) rs1569301036
NM_004606.5(TAF1):c.3648A>G (p.Gln1216=) rs2034990430
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp) rs864321629
NM_004606.5(TAF1):c.3700C>T (p.Arg1234Trp) rs1602538353
NM_004606.5(TAF1):c.3950T>C (p.Ile1317Thr) rs864321627
NM_004606.5(TAF1):c.3973G>A (p.Val1325Ile) rs1131691982
NM_004606.5(TAF1):c.3992T>A (p.Ile1331Asn) rs1602549992
NM_004606.5(TAF1):c.4295G>A (p.Arg1432His) rs2148488251
NM_004606.5(TAF1):c.4382A>G (p.Asn1461Ser) rs1602572645
NM_004606.5(TAF1):c.4382A>T (p.Asn1461Ile) rs1602572645
NM_004606.5(TAF1):c.4394A>G (p.His1465Arg) rs1064793874
NM_004606.5(TAF1):c.4489A>C (p.Asn1497His) rs1602624914
NM_004606.5(TAF1):c.4520C>T (p.Ala1507Val) rs1602624950
NM_004606.5(TAF1):c.4666A>G (p.Lys1556Glu) rs1602627327
NM_004606.5(TAF1):c.5304G>C (p.Glu1768Asp) rs1602753978
NM_004606.5(TAF1):c.553A>G (p.Ser185Gly) rs1602459601
NM_004606.5(TAF1):c.892G>A (p.Ala298Thr) rs1602463196
NM_013275.6(ANKRD11):c.1018dup (p.Thr340fs) rs2151766359
NM_013275.6(ANKRD11):c.1756G>A (p.Val586Met) rs1348447346
NM_013275.6(ANKRD11):c.1893del (p.Lys631fs) rs2151762237
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2177_2178del (p.Lys726fs) rs2151761128
NM_013275.6(ANKRD11):c.2273dup (p.Arg759fs) rs2151760723
NM_013275.6(ANKRD11):c.2329_2332del (p.Glu777fs) rs2034485034
NM_013275.6(ANKRD11):c.2404_2407del (p.Leu802fs) rs1555529181
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs) rs886039902
NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs) rs1064794330
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.4489_4490del (p.Arg1497fs) rs2151749530
NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter) rs2151745705
NM_013275.6(ANKRD11):c.5233_5234del (p.Ser1745fs) rs2034218920
NM_013275.6(ANKRD11):c.5659C>T (p.Gln1887Ter) rs2151742685
NM_013275.6(ANKRD11):c.6596_6597insA (p.Ala2201fs) rs2151735128
NM_013275.6(ANKRD11):c.7354C>G (p.Arg2452Gly) rs1064795497
NM_013275.6(ANKRD11):c.7607G>A (p.Arg2536Gln) rs2033511172
NM_013275.6(ANKRD11):c.7789A>T (p.Lys2597Ter) rs2033085976
NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter) rs797044900

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