ClinVar Miner

List of variants studied for Allan-Herndon-Dudley syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006517.5(SLC16A2):c.1399+43T>G rs5937843 0.57946
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476 0.54054
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=) rs12849161 0.00922
NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr) rs373279555 0.00001
GRCh37/hg19 Xq13.2(chrX:73160043-73703398)
NC_000023.11:g.(74305035_74421492)_(74422068_74520989)del
NG_011641.2:g.(108110_108560)_(109645_112963)del
NM_006517.5(SLC16A2):c.-114GGCAGC[4] rs760787234
NM_006517.5(SLC16A2):c.-53A>C rs587784385
NM_006517.5(SLC16A2):c.-6_430+5del rs2147833779
NM_006517.5(SLC16A2):c.1013C>T (p.Pro338Leu)
NM_006517.5(SLC16A2):c.1015dup (p.Tyr339fs)
NM_006517.5(SLC16A2):c.1026+1G>T rs1555989729
NM_006517.5(SLC16A2):c.1067C>T (p.Thr356Ile)
NM_006517.5(SLC16A2):c.1070G>A (p.Trp357Ter) rs1380635081
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp) rs104894939
NM_006517.5(SLC16A2):c.1088T>C (p.Ile363Thr)
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006517.5(SLC16A2):c.111_116del (p.34_35EP[4]) rs1555979545
NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter) rs104894940
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6]) rs757881983
NM_006517.5(SLC16A2):c.1170+4_1170+7del rs1555989846
NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro) rs122455132
NM_006517.5(SLC16A2):c.1203del (p.Ser401_Met402insTer) rs2147871837
NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro) rs367543059
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val) rs1602143383
NM_006517.5(SLC16A2):c.1270G>A (p.Asp424Asn) rs2147871878
NM_006517.5(SLC16A2):c.1276TTC[1] (p.Phe427del) rs113994164
NM_006517.5(SLC16A2):c.1277del (p.Phe426fs)
NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro) rs104894931
NM_006517.5(SLC16A2):c.1341_1347del (p.Ile448fs)
NM_006517.5(SLC16A2):c.1373del (p.Pro458fs) rs1602143432
NM_006517.5(SLC16A2):c.1388C>T (p.Pro463Leu) rs2147871919
NM_006517.5(SLC16A2):c.1390C>A (p.Pro464Thr)
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser) rs1363308293
NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs) rs797045962
NM_006517.5(SLC16A2):c.1400-1G>C
NM_006517.5(SLC16A2):c.1461dup (p.Ile488fs) rs2147350836
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg) rs794727799
NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs) rs797045963
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro) rs104894938
NM_006517.5(SLC16A2):c.154C>T (p.Gln52Ter) rs1569281085
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs) rs113994166
NM_006517.5(SLC16A2):c.232G>T (p.Glu78Ter)
NM_006517.5(SLC16A2):c.256del (p.Arg86fs) rs797045965
NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys) rs933036653
NM_006517.5(SLC16A2):c.25G>T (p.Glu9Ter)
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter) rs587784386
NM_006517.5(SLC16A2):c.334G>C (p.Gly112Arg) rs1928309226
NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe) rs113994162
NM_006517.5(SLC16A2):c.364G>A (p.Gly122Arg)
NM_006517.5(SLC16A2):c.374del (p.Tyr125fs) rs797045966
NM_006517.5(SLC16A2):c.394G>T (p.Glu132Ter)
NM_006517.5(SLC16A2):c.407del (p.Asn136fs) rs1602099961
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs) rs1602099961
NM_006517.5(SLC16A2):c.431-2A>G rs2147869490
NM_006517.5(SLC16A2):c.431-44029A>C rs1303981973
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter) rs1555989364
NM_006517.5(SLC16A2):c.435G>A (p.Trp145Ter) rs1930396705
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg) rs1602140936
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu) rs104894936
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006517.5(SLC16A2):c.454G>T (p.Gly152Cys)
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del) rs387906501
NM_006517.5(SLC16A2):c.511C>T (p.Arg171Ter) rs1930398120
NM_006517.5(SLC16A2):c.532del (p.Ala178fs) rs1555989375
NM_006517.5(SLC16A2):c.532dup (p.Ala178fs)
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) rs727504155
NM_006517.5(SLC16A2):c.604G>A (p.Gly202Arg) rs794727509
NM_006517.5(SLC16A2):c.607del (p.Ile203fs) rs2147870528
NM_006517.5(SLC16A2):c.629C>A (p.Ser210Tyr)
NM_006517.5(SLC16A2):c.640C>T (p.Gln214Ter)
NM_006517.5(SLC16A2):c.653_660del (p.Val218fs)
NM_006517.5(SLC16A2):c.667T>G (p.Tyr223Asp) rs1930457917
NM_006517.5(SLC16A2):c.698G>T (p.Gly233Val)
NM_006517.5(SLC16A2):c.731del (p.Met244fs)
NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter) rs2147870607
NM_006517.5(SLC16A2):c.852_862dup (p.Gln288fs) rs2147870614
NM_006517.5(SLC16A2):c.855dup (p.Ser286fs)
NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter) rs587784382
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter) rs766773277
NM_006517.5(SLC16A2):c.972G>A (p.Trp324Ter) rs1930463806
NM_006517.5(SLC16A2):c.976T>C (p.Phe326Leu)
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs) rs2147833877
NM_006517.5(SLC16A2):c.993del (p.Ala332fs)
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.