List of variants in gene HDAC8 studied for congenital limb malformation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 221

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HGVS	dbSNP	gnomAD frequency
NM_018486.3(HDAC8):c.159G>A (p.Gln53=)	rs11093377	0.23437
NM_018486.3(HDAC8):c.438-15C>T	rs72630048	0.05226
NM_018486.3(HDAC8):c.57C>T (p.Ile19=)	rs145362166	0.00120
NM_018486.3(HDAC8):c.351G>T (p.Gly117=)	rs199969298	0.00041
NM_018486.3(HDAC8):c.933G>A (p.Thr311=)	rs183108231	0.00030
NM_018486.3(HDAC8):c.295+13C>T	rs138424378	0.00018
NM_018486.3(HDAC8):c.164+19A>T	rs188536186	0.00016
NM_018486.3(HDAC8):c.1111+9C>T	rs368139150	0.00015
NM_018486.3(HDAC8):c.491G>A (p.Arg164Gln)	rs148688742	0.00015
NM_018486.3(HDAC8):c.20C>G (p.Pro7Arg)	rs147689487	0.00009
NM_018486.3(HDAC8):c.384C>T (p.Asp128=)	rs1250641302	0.00008
NM_018486.3(HDAC8):c.169G>A (p.Val57Ile)	rs200737947	0.00007
NM_018486.3(HDAC8):c.213C>T (p.His71=)	rs782349794	0.00006
NM_018486.3(HDAC8):c.629-14C>T	rs1164078285	0.00005
NM_018486.3(HDAC8):c.639C>T (p.Asp213=)	rs142540077	0.00005
NM_018486.3(HDAC8):c.522C>T (p.Tyr174=)	rs146015223	0.00004
NM_018486.3(HDAC8):c.834C>T (p.Asn278=)	rs781878660	0.00004
NM_018486.3(HDAC8):c.206C>A (p.Thr69Asn)	rs373083907	0.00003
NM_018486.3(HDAC8):c.372A>G (p.Gln124=)	rs141306915	0.00003
NM_018486.3(HDAC8):c.915C>G (p.Gly305=)	rs782121649	0.00003
NM_018486.3(HDAC8):c.984C>T (p.Ser328=)	rs782234700	0.00003
NM_018486.3(HDAC8):c.1047G>A (p.Thr349=)	rs782747900	0.00002
NM_018486.3(HDAC8):c.1082G>A (p.Arg361Gln)	rs781862582	0.00002
NM_018486.3(HDAC8):c.111+20A>C	rs782224300	0.00002
NM_018486.3(HDAC8):c.1111+16C>T	rs1039038766	0.00002
NM_018486.3(HDAC8):c.198G>T (p.Glu66Asp)	rs373199509	0.00002
NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr)	rs200093133	0.00002
NM_018486.3(HDAC8):c.281T>C (p.Ile94Thr)	rs1452290404	0.00002
NM_018486.3(HDAC8):c.318A>G (p.Glu106=)	rs1388554395	0.00002
NM_018486.3(HDAC8):c.429T>C (p.His143=)	rs374885534	0.00002
NM_018486.3(HDAC8):c.516T>A (p.Ile172=)	rs61752447	0.00002
NM_018486.3(HDAC8):c.561C>T (p.Asp187=)	rs931276707	0.00002
NM_018486.3(HDAC8):c.756C>T (p.Tyr252=)	rs368682006	0.00002
NM_018486.3(HDAC8):c.1052G>C (p.Ser351Thr)	rs782558250	0.00001
NM_018486.3(HDAC8):c.1111+10G>T	rs373892213	0.00001
NM_018486.3(HDAC8):c.135T>C (p.Ile45=)	rs1556159779	0.00001
NM_018486.3(HDAC8):c.342T>C (p.Ala114=)	rs1324464792	0.00001
NM_018486.3(HDAC8):c.357G>A (p.Thr119=)	rs782021788	0.00001
NM_018486.3(HDAC8):c.438-17A>G	rs782753936	0.00001
NM_018486.3(HDAC8):c.835A>G (p.Met279Val)	rs1555993170	0.00001
NM_018486.3(HDAC8):c.910+17G>T	rs782676451	0.00001
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met)	rs397515417	0.00001
NC_000023.10:g.(?_71681834)_(71681968_?)del
NC_000023.10:g.(?_71681834)_(71715138_?)dup
NC_000023.11:g.72456277_72483823del
NM_018486.3(HDAC8):c.-5G>T	rs587783662
NM_018486.3(HDAC8):c.1001A>G (p.His334Arg)	rs397515418
NM_018486.3(HDAC8):c.1005+2T>C	rs2148039062
NM_018486.3(HDAC8):c.1005+5G>A
NM_018486.3(HDAC8):c.1006-2A>G	rs863224877
NM_018486.3(HDAC8):c.1006-4A>G
NM_018486.3(HDAC8):c.1010dup (p.Thr338fs)
NM_018486.3(HDAC8):c.1011dup (p.Thr338fs)
NM_018486.3(HDAC8):c.1019A>C (p.Tyr340Ser)	rs1555949010
NM_018486.3(HDAC8):c.1019A>G (p.Tyr340Cys)	rs1555949010
NM_018486.3(HDAC8):c.104C>T (p.Pro35Leu)	rs782296225
NM_018486.3(HDAC8):c.104_105del (p.Pro35fs)	rs1556165162
NM_018486.3(HDAC8):c.1053C>T (p.Ser351=)
NM_018486.3(HDAC8):c.1058G>A (p.Arg353Gln)
NM_018486.3(HDAC8):c.1066C>T (p.Arg356Cys)
NM_018486.3(HDAC8):c.1068C>A (p.Arg356=)
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter)	rs1555948969
NM_018486.3(HDAC8):c.1085T>C (p.Ile362Thr)
NM_018486.3(HDAC8):c.1104C>T (p.Tyr368=)
NM_018486.3(HDAC8):c.1105A>G (p.Ile369Val)
NM_018486.3(HDAC8):c.111+10G>A
NM_018486.3(HDAC8):c.111+14G>C	rs2147618204
NM_018486.3(HDAC8):c.111+20A>G
NM_018486.3(HDAC8):c.111+6G>A
NM_018486.3(HDAC8):c.111+7G>A	rs2147618283
NM_018486.3(HDAC8):c.1111+13C>T
NM_018486.3(HDAC8):c.1111+17del
NM_018486.3(HDAC8):c.1111G>A (p.Gly371Arg)
NM_018486.3(HDAC8):c.1112-10_1112-9del
NM_018486.3(HDAC8):c.1112-11C>G
NM_018486.3(HDAC8):c.1112-2A>G	rs1131690790
NM_018486.3(HDAC8):c.1112-4_1116del	rs1602491207
NM_018486.3(HDAC8):c.1112-5T>G
NM_018486.3(HDAC8):c.1117C>A (p.Leu373Met)
NM_018486.3(HDAC8):c.111G>C (p.Arg37=)
NM_018486.3(HDAC8):c.112-11G>T
NM_018486.3(HDAC8):c.112-14G>A
NM_018486.3(HDAC8):c.112-17del	rs3830710
NM_018486.3(HDAC8):c.112-18_112-17dup
NM_018486.3(HDAC8):c.112-29dup	rs3830710
NM_018486.3(HDAC8):c.1126G>A (p.Val376Met)
NM_018486.3(HDAC8):c.11C>T (p.Pro4Leu)
NM_018486.3(HDAC8):c.12G>A (p.Pro4=)
NM_018486.3(HDAC8):c.131del (p.Ser43_Leu44insTer)	rs587783663
NM_018486.3(HDAC8):c.134T>C (p.Ile45Thr)	rs2147614771
NM_018486.3(HDAC8):c.134_137del (p.Ile45fs)	rs797045610
NM_018486.3(HDAC8):c.141A>T (p.Ala47=)
NM_018486.3(HDAC8):c.164+2dup	rs2147614590
NM_018486.3(HDAC8):c.164+4del	rs2147614572
NM_018486.3(HDAC8):c.164+5G>A	rs398122888
NM_018486.3(HDAC8):c.164+9T>C
NM_018486.3(HDAC8):c.164G>T (p.Arg55Met)
NM_018486.3(HDAC8):c.165-11G>A
NM_018486.3(HDAC8):c.166A>G (p.Ile56Val)
NM_018486.3(HDAC8):c.182T>G (p.Val61Gly)	rs2051901690
NM_018486.3(HDAC8):c.20C>A (p.Pro7Gln)
NM_018486.3(HDAC8):c.21G>C (p.Pro7=)	rs1603246257
NM_018486.3(HDAC8):c.225T>C (p.Tyr75=)
NM_018486.3(HDAC8):c.229C>T (p.Gln77Ter)	rs797045611
NM_018486.3(HDAC8):c.23C>A (p.Ala8Glu)
NM_018486.3(HDAC8):c.24G>A (p.Ala8=)	rs61736843
NM_018486.3(HDAC8):c.291G>A (p.Gly97=)
NM_018486.3(HDAC8):c.295+2T>G	rs2051897517
NM_018486.3(HDAC8):c.296-13T>C
NM_018486.3(HDAC8):c.296-13T>G
NM_018486.3(HDAC8):c.296-6C>T
NM_018486.3(HDAC8):c.29G>A (p.Ser10Asn)	rs2147618964
NM_018486.3(HDAC8):c.302A>G (p.Asp101Gly)	rs2051867176
NM_018486.3(HDAC8):c.306C>T (p.Cys102=)
NM_018486.3(HDAC8):c.310G>A (p.Ala104Thr)
NM_018486.3(HDAC8):c.31G>C (p.Gly11Arg)
NM_018486.3(HDAC8):c.330C>T (p.Asp110=)	rs2051865907
NM_018486.3(HDAC8):c.349G>A (p.Gly117Arg)
NM_018486.3(HDAC8):c.356C>G (p.Thr119Arg)	rs587779380
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met)	rs587779380
NM_018486.3(HDAC8):c.381T>A (p.Ile127=)
NM_018486.3(HDAC8):c.383A>T (p.Asp128Val)
NM_018486.3(HDAC8):c.418G>A (p.Gly140Arg)	rs1569412360
NM_018486.3(HDAC8):c.421_423del (p.Trp141del)	rs587783664
NM_018486.3(HDAC8):c.437+13C>G
NM_018486.3(HDAC8):c.437+16_437+19del
NM_018486.3(HDAC8):c.43G>A (p.Val15Ile)
NM_018486.3(HDAC8):c.440A>T (p.Asp147Val)
NM_018486.3(HDAC8):c.471T>G (p.Asp157Glu)	rs2148144488
NM_018486.3(HDAC8):c.474T>C (p.Ala158=)
NM_018486.3(HDAC8):c.477C>T (p.Val159=)
NM_018486.3(HDAC8):c.487T>C (p.Leu163=)
NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter)	rs397515415
NM_018486.3(HDAC8):c.491G>T (p.Arg164Leu)
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter)	rs886041936
NM_018486.3(HDAC8):c.499C>T (p.Arg167Trp)
NM_018486.3(HDAC8):c.500G>A (p.Arg167Gln)
NM_018486.3(HDAC8):c.502A>G (p.Lys168Glu)	rs2148144312
NM_018486.3(HDAC8):c.508G>A (p.Glu170Lys)	rs1556012224
NM_018486.3(HDAC8):c.510G>A (p.Glu170=)
NM_018486.3(HDAC8):c.522C>A (p.Tyr174Ter)	rs146015223
NM_018486.3(HDAC8):c.522C>G (p.Tyr174Ter)	rs146015223
NM_018486.3(HDAC8):c.525G>A (p.Val175=)
NM_018486.3(HDAC8):c.527A>G (p.Asp176Gly)	rs1057518727
NM_018486.3(HDAC8):c.539A>G (p.His180Arg)	rs397515416
NM_018486.3(HDAC8):c.550+7C>T
NM_018486.3(HDAC8):c.550+9T>G
NM_018486.3(HDAC8):c.551-17G>A
NM_018486.3(HDAC8):c.551del (p.Gly184fs)	rs2148131678
NM_018486.3(HDAC8):c.556G>A (p.Glu186Lys)	rs797045612
NM_018486.3(HDAC8):c.558A>G (p.Glu186=)	rs2148131646
NM_018486.3(HDAC8):c.584T>A (p.Val195Asp)	rs1556009247
NM_018486.3(HDAC8):c.587T>C (p.Met196Thr)
NM_018486.3(HDAC8):c.590C>A (p.Thr197Asn)
NM_018486.3(HDAC8):c.602A>T (p.His201Leu)
NM_018486.3(HDAC8):c.603C>T (p.His201=)
NM_018486.3(HDAC8):c.615A>G (p.Pro205=)
NM_018486.3(HDAC8):c.628+20G>A	rs2148131378
NM_018486.3(HDAC8):c.628+7G>A
NM_018486.3(HDAC8):c.629-11C>G
NM_018486.3(HDAC8):c.629-16C>T
NM_018486.3(HDAC8):c.629-18T>C
NM_018486.3(HDAC8):c.640G>A (p.Val214Met)
NM_018486.3(HDAC8):c.657A>C (p.Leu219=)
NM_018486.3(HDAC8):c.666A>G (p.Gly222=)
NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp)	rs1556007534
NM_018486.3(HDAC8):c.669G>T (p.Arg223=)
NM_018486.3(HDAC8):c.66C>G (p.Pro22=)
NM_018486.3(HDAC8):c.66C>T (p.Pro22=)
NM_018486.3(HDAC8):c.683A>T (p.Asn228Ile)	rs2148124551
NM_018486.3(HDAC8):c.68A>C (p.Glu23Ala)	rs2147618656
NM_018486.3(HDAC8):c.717A>T (p.Lys239Asn)
NM_018486.3(HDAC8):c.720T>G (p.Tyr240Ter)	rs2048769063
NM_018486.3(HDAC8):c.731G>A (p.Cys244Tyr)
NM_018486.3(HDAC8):c.737+16_737+28del
NM_018486.3(HDAC8):c.737+1G>A	rs869312660
NM_018486.3(HDAC8):c.737+3A>G
NM_018486.3(HDAC8):c.737+6G>A
NM_018486.3(HDAC8):c.738-1619G>A	rs2148050178
NM_018486.3(HDAC8):c.738-17del
NM_018486.3(HDAC8):c.738-1G>A	rs1602975601
NM_018486.3(HDAC8):c.738-2A>G
NM_018486.3(HDAC8):c.738-4A>G	rs782294776
NM_018486.3(HDAC8):c.738-9969T>C	rs782287729
NM_018486.3(HDAC8):c.747G>A (p.Lys249=)
NM_018486.3(HDAC8):c.748del (p.Glu250fs)
NM_018486.3(HDAC8):c.75_82del (p.Val25_Ser26insTer)	rs2147618568
NM_018486.3(HDAC8):c.75_82dup (p.Cys28fs)
NM_018486.3(HDAC8):c.767A>T (p.Asn256Ile)
NM_018486.3(HDAC8):c.769C>T (p.Pro257Ser)	rs1602975455
NM_018486.3(HDAC8):c.770C>A (p.Pro257His)	rs797045613
NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter)	rs886041838
NM_018486.3(HDAC8):c.793G>A (p.Gly265Arg)	rs1569318004
NM_018486.3(HDAC8):c.796G>C (p.Ala266Pro)	rs1569317995
NM_018486.3(HDAC8):c.799G>A (p.Asp267Asn)	rs2047965357
NM_018486.3(HDAC8):c.822G>A (p.Met274Ile)
NM_018486.3(HDAC8):c.828C>T (p.Ser276=)
NM_018486.3(HDAC8):c.831T>A (p.Phe277Leu)
NM_018486.3(HDAC8):c.839_843delinsGT (p.Thr280_Pro281delinsSer)	rs1057516037
NM_018486.3(HDAC8):c.859T>C (p.Cys287Arg)	rs1602975122
NM_018486.3(HDAC8):c.881G>A (p.Trp294Ter)	rs2148045934
NM_018486.3(HDAC8):c.889G>C (p.Ala297Pro)
NM_018486.3(HDAC8):c.894A>G (p.Thr298=)
NM_018486.3(HDAC8):c.898A>C (p.Ile300Leu)
NM_018486.3(HDAC8):c.910+20A>G	rs2148045760
NM_018486.3(HDAC8):c.911-13T>C
NM_018486.3(HDAC8):c.911-5G>C
NM_018486.3(HDAC8):c.914G>A (p.Gly305Asp)	rs2148039310
NM_018486.3(HDAC8):c.925G>T (p.Ala309Ser)
NM_018486.3(HDAC8):c.927C>T (p.Ala309=)
NM_018486.3(HDAC8):c.930C>T (p.Asn310=)
NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter)	rs1569316085
NM_018486.3(HDAC8):c.938G>A (p.Arg313Gln)
NM_018486.3(HDAC8):c.943T>A (p.Trp315Arg)
NM_018486.3(HDAC8):c.951C>T (p.Tyr317=)	rs1555991936
NM_018486.3(HDAC8):c.956C>T (p.Thr319Ile)	rs2148039184
NM_018486.3(HDAC8):c.957C>T (p.Thr319=)	rs782144834
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg)	rs398122909
NM_018486.3(HDAC8):c.976A>G (p.Thr326Ala)
NM_018486.3(HDAC8):c.976_996del (p.Thr326_Pro332del)
NM_018486.3(HDAC8):c.9_17dup (p.Pro7_Ala8insGluGluPro)

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