ClinVar Miner

List of variants in gene ASH1L studied for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_018489.3(ASH1L):c.5311A>G (p.Thr1771Ala) rs4971053 0.95641
NM_018489.3(ASH1L):c.8293+58A>G rs4971051 0.93536
NM_018489.3(ASH1L):c.1318T>G (p.Cys440Gly) rs114218266 0.02209
NM_018489.3(ASH1L):c.4200C>T (p.Tyr1400=) rs112530764 0.01179
NM_018489.3(ASH1L):c.2330G>A (p.Arg777His) rs74353643 0.00654
NM_018489.3(ASH1L):c.5175G>A (p.Glu1725=) rs72993423 0.00205
NM_018489.3(ASH1L):c.7763A>G (p.Tyr2588Cys) rs749649980 0.00012
NM_018489.3(ASH1L):c.7598G>A (p.Arg2533His) rs138122556 0.00010
NM_018489.3(ASH1L):c.4871G>A (p.Arg1624Gln) rs931459501 0.00005
NM_018489.3(ASH1L):c.5578G>A (p.Ala1860Thr) rs752491383 0.00004
NM_018489.3(ASH1L):c.2333G>A (p.Arg778Gln) rs373475579 0.00003
NM_018489.3(ASH1L):c.4601A>G (p.His1534Arg) rs776962103 0.00003
NM_018489.3(ASH1L):c.3264T>G (p.Ile1088Met) rs367721790 0.00002
NM_018489.3(ASH1L):c.5051G>A (p.Arg1684Gln) rs1280114281 0.00002
NM_018489.3(ASH1L):c.6238G>A (p.Val2080Ile) rs749494995 0.00002
NM_018489.3(ASH1L):c.1570C>T (p.Pro524Ser) rs143322824 0.00001
NM_018489.3(ASH1L):c.2002T>A (p.Ser668Thr) rs1024108484 0.00001
NM_018489.3(ASH1L):c.2162A>C (p.Lys721Thr) rs767107285 0.00001
NM_018489.3(ASH1L):c.3170C>G (p.Thr1057Ser) rs1665818268 0.00001
NM_018489.3(ASH1L):c.4835G>C (p.Gly1612Ala) rs1207751518 0.00001
NM_018489.3(ASH1L):c.4839C>G (p.Ser1613Arg) rs1665688637 0.00001
NM_018489.3(ASH1L):c.5269C>T (p.Arg1757Ter) rs1662320308 0.00001
NM_018489.3(ASH1L):c.8156G>A (p.Arg2719His) rs375304383 0.00001
NM_018489.3(ASH1L):c.1013C>A (p.Ser338Ter) rs1665984696
NM_018489.3(ASH1L):c.1021A>G (p.Lys341Glu)
NM_018489.3(ASH1L):c.1037T>C (p.Ile346Thr) rs775556643
NM_018489.3(ASH1L):c.132GGA[1] (p.Glu47del)
NM_018489.3(ASH1L):c.1404TGT[1] (p.Val470del) rs754036049
NM_018489.3(ASH1L):c.1470G>T (p.Leu490Phe) rs1570942991
NM_018489.3(ASH1L):c.1541A>T (p.Tyr514Phe)
NM_018489.3(ASH1L):c.154C>T (p.Arg52Trp)
NM_018489.3(ASH1L):c.1550C>T (p.Ser517Leu)
NM_018489.3(ASH1L):c.1559A>G (p.Glu520Gly)
NM_018489.3(ASH1L):c.1573G>C (p.Val525Leu) rs1570942566
NM_018489.3(ASH1L):c.1603G>T (p.Gly535Ter)
NM_018489.3(ASH1L):c.1607G>T (p.Gly536Val)
NM_018489.3(ASH1L):c.161G>C (p.Arg54Pro) rs1416735817
NM_018489.3(ASH1L):c.1649T>C (p.Val550Ala)
NM_018489.3(ASH1L):c.1723T>G (p.Ser575Ala)
NM_018489.3(ASH1L):c.1907C>G (p.Ser636Ter) rs1198775988
NM_018489.3(ASH1L):c.1959del (p.Lys653fs)
NM_018489.3(ASH1L):c.1982G>A (p.Ser661Asn)
NM_018489.3(ASH1L):c.2014T>G (p.Phe672Val) rs1665903377
NM_018489.3(ASH1L):c.2126dup (p.Leu709fs) rs2148727707
NM_018489.3(ASH1L):c.2134dup (p.Arg712fs) rs1558150870
NM_018489.3(ASH1L):c.2170G>T (p.Ala724Ser) rs1293246328
NM_018489.3(ASH1L):c.221C>T (p.Ser74Leu)
NM_018489.3(ASH1L):c.2239T>C (p.Cys747Arg)
NM_018489.3(ASH1L):c.2268G>C (p.Glu756Asp) rs2148727190
NM_018489.3(ASH1L):c.2387G>A (p.Ser796Asn)
NM_018489.3(ASH1L):c.2407T>G (p.Ser803Ala)
NM_018489.3(ASH1L):c.2450G>A (p.Ser817Asn)
NM_018489.3(ASH1L):c.251A>G (p.Asn84Ser) rs1668868551
NM_018489.3(ASH1L):c.2668A>G (p.Arg890Gly)
NM_018489.3(ASH1L):c.2707A>T (p.Met903Leu)
NM_018489.3(ASH1L):c.2951G>A (p.Arg984His)
NM_018489.3(ASH1L):c.3034G>A (p.Gly1012Arg)
NM_018489.3(ASH1L):c.326G>A (p.Arg109Gln)
NM_018489.3(ASH1L):c.3397G>C (p.Val1133Leu) rs1665802694
NM_018489.3(ASH1L):c.3400C>T (p.Pro1134Ser) rs2148723626
NM_018489.3(ASH1L):c.3582T>G (p.Asp1194Glu)
NM_018489.3(ASH1L):c.3664_3667del (p.Lys1222fs) rs1558148010
NM_018489.3(ASH1L):c.3705del (p.Glu1236fs) rs1553265189
NM_018489.3(ASH1L):c.3838C>T (p.Arg1280Ter) rs1553265154
NM_018489.3(ASH1L):c.3905G>A (p.Arg1302Gln)
NM_018489.3(ASH1L):c.3913C>T (p.His1305Tyr)
NM_018489.3(ASH1L):c.3917G>A (p.Arg1306Gln) rs758885213
NM_018489.3(ASH1L):c.3976dup (p.Ser1326fs) rs2148721714
NM_018489.3(ASH1L):c.398A>G (p.Asn133Ser)
NM_018489.3(ASH1L):c.4065_4072del (p.Met1356fs) rs2148721365
NM_018489.3(ASH1L):c.407G>C (p.Cys136Ser)
NM_018489.3(ASH1L):c.4289G>T (p.Gly1430Val)
NM_018489.3(ASH1L):c.4484C>T (p.Ser1495Phe)
NM_018489.3(ASH1L):c.4546C>T (p.Arg1516Cys)
NM_018489.3(ASH1L):c.4593G>C (p.Lys1531Asn)
NM_018489.3(ASH1L):c.466G>A (p.Glu156Lys)
NM_018489.3(ASH1L):c.4720C>T (p.Pro1574Ser) rs1553264855
NM_018489.3(ASH1L):c.473A>G (p.Gln158Arg)
NM_018489.3(ASH1L):c.4793C>T (p.Ala1598Val)
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs) rs1665684529
NM_018489.3(ASH1L):c.4909C>T (p.Gln1637Ter)
NM_018489.3(ASH1L):c.491del (p.Arg164fs)
NM_018489.3(ASH1L):c.5038T>G (p.Cys1680Gly)
NM_018489.3(ASH1L):c.5260A>G (p.Ser1754Gly)
NM_018489.3(ASH1L):c.5285C>T (p.Pro1762Leu)
NM_018489.3(ASH1L):c.5291G>A (p.Ser1764Asn)
NM_018489.3(ASH1L):c.5325C>A (p.Cys1775Ter)
NM_018489.3(ASH1L):c.5337C>G (p.Ile1779Met)
NM_018489.3(ASH1L):c.5369G>A (p.Cys1790Tyr)
NM_018489.3(ASH1L):c.5371T>G (p.Ser1791Ala)
NM_018489.3(ASH1L):c.5413C>G (p.Arg1805Gly)
NM_018489.3(ASH1L):c.5555G>A (p.Arg1852Gln)
NM_018489.3(ASH1L):c.5569_5585del (p.Pro1857fs)
NM_018489.3(ASH1L):c.5575C>T (p.Gln1859Ter)
NM_018489.3(ASH1L):c.574A>G (p.Thr192Ala)
NM_018489.3(ASH1L):c.5786A>G (p.Gln1929Arg)
NM_018489.3(ASH1L):c.5801A>T (p.Glu1934Val)
NM_018489.3(ASH1L):c.5881C>G (p.Pro1961Ala) rs116069205
NM_018489.3(ASH1L):c.5918C>T (p.Ser1973Phe)
NM_018489.3(ASH1L):c.6023T>A (p.Leu2008Ter) rs2148484146
NM_018489.3(ASH1L):c.6104-3C>G rs1656806167
NM_018489.3(ASH1L):c.6129dup (p.Asp2044Ter) rs2148443341
NM_018489.3(ASH1L):c.6224-3A>T
NM_018489.3(ASH1L):c.6302G>A (p.Arg2101Lys)
NM_018489.3(ASH1L):c.6334A>G (p.Met2112Val)
NM_018489.3(ASH1L):c.6427G>T (p.Glu2143Ter) rs1553247374
NM_018489.3(ASH1L):c.6540G>A (p.Arg2180=)
NM_018489.3(ASH1L):c.6545G>C (p.Arg2182Thr) rs2148414951
NM_018489.3(ASH1L):c.6640C>T (p.Arg2214Ter)
NM_018489.3(ASH1L):c.6803_6804delinsTTCTCA (p.Cys2268fs) rs1553245038
NM_018489.3(ASH1L):c.6911C>T (p.Ser2304Phe) rs774024798
NM_018489.3(ASH1L):c.7046A>G (p.Asn2349Ser)
NM_018489.3(ASH1L):c.7051G>A (p.Glu2351Lys) rs2148370703
NM_018489.3(ASH1L):c.71C>T (p.Ser24Phe)
NM_018489.3(ASH1L):c.7291A>G (p.Asn2431Asp) rs1654048048
NM_018489.3(ASH1L):c.7316G>A (p.Arg2439His)
NM_018489.3(ASH1L):c.7421+6T>C
NM_018489.3(ASH1L):c.7430A>G (p.Asp2477Gly) rs1167682897
NM_018489.3(ASH1L):c.7513G>A (p.Ala2505Thr)
NM_018489.3(ASH1L):c.7603C>T (p.Arg2535Ter)
NM_018489.3(ASH1L):c.7721A>C (p.His2574Pro)
NM_018489.3(ASH1L):c.7764_7768dup (p.Asp2590fs) rs1553242856
NM_018489.3(ASH1L):c.779G>T (p.Gly260Val)
NM_018489.3(ASH1L):c.7804G>T (p.Val2602Leu)
NM_018489.3(ASH1L):c.7934G>A (p.Cys2645Tyr)
NM_018489.3(ASH1L):c.7957C>T (p.Arg2653Ter)
NM_018489.3(ASH1L):c.8342G>A (p.Arg2781Gln)
NM_018489.3(ASH1L):c.8356G>C (p.Ala2786Pro) rs1553241570
NM_018489.3(ASH1L):c.8386C>A (p.Arg2796Ser)
NM_018489.3(ASH1L):c.8447A>G (p.Lys2816Arg) rs1652858406
NM_018489.3(ASH1L):c.8641C>T (p.Arg2881Trp)
NM_018489.3(ASH1L):c.8642G>T (p.Arg2881Leu) rs375668916
NM_018489.3(ASH1L):c.8693G>A (p.Ser2898Asn)
NM_018489.3(ASH1L):c.8854dup (p.Arg2952fs) rs775592405
NM_018489.3(ASH1L):c.886G>C (p.Ala296Pro)
NM_018489.3(ASH1L):c.8871C>G (p.Ile2957Met)
NM_018489.3(ASH1L):c.889G>A (p.Val297Ile) rs955398090
NM_018489.3(ASH1L):c.960C>T (p.Asn320=)
NM_018489.3(ASH1L):c.961T>A (p.Leu321Ile) rs1665987514

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