ClinVar Miner

List of variants studied for chromosomal disorder by New York Genome Center

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser) rs376756158 0.00014
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser) rs183855575 0.00012
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser) rs145732429 0.00006
NM_022455.5(NSD1):c.3311A>G (p.His1104Arg) rs758125212 0.00004
NM_030665.4(RAI1):c.817C>T (p.Arg273Cys) rs758637644 0.00003
NM_030665.4(RAI1):c.239G>A (p.Arg80Gln) rs372896387 0.00002
NM_030665.4(RAI1):c.3590G>T (p.Gly1197Val) rs368975225 0.00002
NM_030665.4(RAI1):c.458C>T (p.Pro153Leu) rs1468262694 0.00002
NM_030665.4(RAI1):c.5225G>T (p.Gly1742Val) rs558768145 0.00002
NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser) rs548852837 0.00001
NM_001145358.2(SIN3A):c.286G>A (p.Gly96Ser) rs761104318 0.00001
NM_001145358.2(SIN3A):c.3614G>A (p.Arg1205His) rs747873220 0.00001
NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr) rs1216919340 0.00001
NM_019066.5(MAGEL2):c.2343G>T (p.Glu781Asp) rs772413215 0.00001
NM_019066.5(MAGEL2):c.2363G>T (p.Ser788Ile) rs984557516 0.00001
NM_019066.5(MAGEL2):c.3559C>T (p.Arg1187Ter) rs368965952 0.00001
NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg) rs1488271424 0.00001
NM_022455.5(NSD1):c.2363G>A (p.Arg788Gln) rs751258086 0.00001
NM_030665.4(RAI1):c.226G>A (p.Asp76Asn) rs936181213 0.00001
NM_030665.4(RAI1):c.4114G>A (p.Gly1372Arg) rs149839441 0.00001
NM_030665.4(RAI1):c.4963G>A (p.Gly1655Ser) rs794727522 0.00001
NM_030665.4(RAI1):c.514C>T (p.His172Tyr) rs143161740 0.00001
NM_078480.3(PUF60):c.239A>G (p.Lys80Arg) rs1411433335 0.00001
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)
GRCh38/hg38 2q23.1(chr2:148120444-148180182)
NC_000001.10:g.4481271_20530242del
NC_000007.14:g.(75058300_?)_(?_79083658)del
NC_000014.9:g.20013858_20436718dup
NC_000015.10:g.22698177_(23120963_23380983)del
NC_000015.10:g.22804175_30375696dup
NC_000015.10:g.31722025_32224686dup
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001145358.2(SIN3A):c.1051C>T (p.Pro351Ser) rs2073605317
NM_001145358.2(SIN3A):c.1373A>G (p.His458Arg) rs768415150
NM_001145358.2(SIN3A):c.212C>T (p.Ser71Phe) rs2073861256
NM_001145358.2(SIN3A):c.2485G>C (p.Gly829Arg) rs2073227641
NM_001145358.2(SIN3A):c.3346C>T (p.Arg1116Cys) rs760200525
NM_001145358.2(SIN3A):c.3591G>A (p.Gln1197=) rs2141368447
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.700+5290A>G rs2105843329
NM_001372044.2(SHANK3):c.1124G>T (p.Arg375Leu) rs2124372210
NM_001372044.2(SHANK3):c.1181C>T (p.Ala394Val) rs2124372229
NM_001372044.2(SHANK3):c.2365C>T (p.Leu789=) rs1447758824
NM_001372044.2(SHANK3):c.3014C>T (p.Pro1005Leu) rs2083276245
NM_001372044.2(SHANK3):c.3226G>A (p.Ala1076Thr) rs1555910078
NM_001378120.1(MBD5):c.136T>C (p.Cys46Arg) rs139186486
NM_001378120.1(MBD5):c.2237C>G (p.Ser746Cys) rs2105641052
NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly) rs1192078635
NM_001379200.1(TBX1):c.1459A>T (p.Met487Leu) rs1936874664
NM_001379291.1(BRD4):c.629C>G (p.Thr210Ser) rs745976416
NM_002397.5(MEF2C):c.-142-25787T>G rs2153377579
NM_006940.6(SOX5):c.1017G>A (p.Gln339=) rs2138723102
NM_006940.6(SOX5):c.1343-4733C>T rs1947477250
NM_006940.6(SOX5):c.347G>C (p.Gly116Ala)
NM_016628.5(WAC):c.1597A>G (p.Asn533Asp) rs1841460217
NM_016628.5(WAC):c.275-22319G>T rs2132485043
NM_016628.5(WAC):c.472dup (p.Glu158fs) rs2132669368
NM_019066.5(MAGEL2):c.1445C>T (p.Ala482Val) rs2140716042
NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu) rs201935129
NM_019066.5(MAGEL2):c.2587C>A (p.Gln863Lys)
NM_019066.5(MAGEL2):c.2746A>G (p.Asn916Asp) rs2140713261
NM_019066.5(MAGEL2):c.293_294delinsAT (p.Pro98His)
NM_019066.5(MAGEL2):c.3384G>C (p.Arg1128Ser) rs1357977229
NM_019066.5(MAGEL2):c.3661G>A (p.Ala1221Thr) rs779840896
NM_019066.5(MAGEL2):c.509_510delinsTG (p.Ala170Val) rs2140718561
NM_019066.5(MAGEL2):c.623C>A (p.Pro208Gln)
NM_019066.5(MAGEL2):c.992C>T (p.Pro331Leu)
NM_022455.4:c.928-10312_3797-10414del
NM_022455.5(NSD1):c.1028C>G (p.Ser343Cys) rs1761727286
NM_022455.5(NSD1):c.1921A>G (p.Thr641Ala) rs1763234813
NM_022455.5(NSD1):c.2077A>G (p.Asn693Asp) rs773782115
NM_022455.5(NSD1):c.2267A>T (p.Asn756Ile) rs139085502
NM_022455.5(NSD1):c.2963C>T (p.Ser988Phe) rs1465577289
NM_022455.5(NSD1):c.3438T>G (p.Asp1146Glu) rs1180409864
NM_022455.5(NSD1):c.5549C>T (p.Ala1850Val) rs2127241862
NM_030665.4(RAI1):c.3168T>G (p.Cys1056Trp) rs2143002559
NM_030665.4(RAI1):c.3649C>T (p.Arg1217Trp) rs898986244
NM_078480.3(PUF60):c.668G>A (p.Arg223Gln) rs1317244394
NM_152989.5(SOX5):c.-1-87764T>C rs1949815031
NM_152989.5(SOX5):c.-175-344A>G rs2136240323
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.