ClinVar Miner

List of variants reported as pathogenic for chromosomal disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (211):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NC_000023.11:g.153714363_153781647del
NM_000057.4(BLM):c.1624del (p.Asp542fs) rs747498968
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter) rs104894164
NM_001002295.2(GATA3):c.431dup (p.His145fs) rs1588377948
NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser) rs767074039
NM_001002295.2(GATA3):c.896G>T (p.Arg299Leu) rs2131501118
NM_001002295.2(GATA3):c.924+1G>A
NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser) rs1832898282
NM_001145358.2(SIN3A):c.1017_1021del (p.Arg340fs)
NM_001145358.2(SIN3A):c.965dup (p.Asp323fs)
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001172509.2(SATB2):c.728C>G (p.Ser243Ter)
NM_001172509.2(SATB2):c.988C>T (p.Gln330Ter)
NM_002397.5(MEF2C):c.44G>C (p.Arg15Pro) rs1202957297
NM_002397.5(MEF2C):c.908del (p.Leu303fs)
NM_002397.5(MEF2C):c.939_940del (p.Ala314fs)
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys) rs1591833159
NM_006940.6(SOX5):c.554_555del (p.Phe185fs)
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter) rs1564421528
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.2057G>A (p.Trp686Ter) rs768844200
NM_022455.5(NSD1):c.1064-2A>G rs2149836062
NM_022455.5(NSD1):c.1236+2T>C
NM_022455.5(NSD1):c.1253dup (p.Leu418fs)
NM_022455.5(NSD1):c.2948dup (p.Gly983_Asp984insTer) rs2149846650
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter) rs587784107
NM_022455.5(NSD1):c.4378+3_4378+6del rs1562251194
NM_022455.5(NSD1):c.4771C>T (p.His1591Tyr) rs1554199368
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg) rs1756522180
NM_022455.5(NSD1):c.4919G>A (p.Cys1640Tyr)
NM_022455.5(NSD1):c.5258dup (p.Pro1754fs)
NM_022455.5(NSD1):c.5738A>G (p.Asn1913Ser) rs2127257170
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.7405del (p.Ala2469fs) rs2127282737
NM_030665.4(RAI1):c.4317dup (p.Thr1440fs)
NM_078480.3(PUF60):c.1154_1166del (p.Pro385fs) rs2130223089
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg) rs1816336903
NM_078480.3(PUF60):c.382_383del (p.Met128fs) rs2130258214
NM_078480.3(PUF60):c.510+1G>A rs1816618311
NM_078480.3(PUF60):c.615del (p.Ser206fs)
NM_078480.3(PUF60):c.860dup (p.Met287fs) rs2130242101

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.