ClinVar Miner

List of variants studied for autosomal anomaly by New York Genome Center

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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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_022455.5(NSD1):c.3311A>G (p.His1104Arg) rs758125212 0.00004
NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser) rs548852837 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_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
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.700+5290A>G rs2105843329
NM_001378120.1(MBD5):c.136T>C (p.Cys46Arg) rs139186486
NM_001378120.1(MBD5):c.2237C>G (p.Ser746Cys) rs2105641052
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_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_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

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