ClinVar Miner

List of variants reported by Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) rs779598020 0.00006
NM_003721.4(RFXANK):c.634C>T (p.Arg212Ter) rs747402973 0.00001
NM_017837.4(PIGV):c.1415T>C (p.Leu472Pro) rs774605091 0.00001
NC_000023.11:g.155264167_155265545del
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr) rs2140840645
NM_001084.5(PLOD3):c.809C>T (p.Pro270Leu) rs1562894320
NM_001272071.2(AP1S2):c.-1+1G>A rs1934288587
NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala) rs2143820895
NM_001365902.3(NFIX):c.346C>T (p.Arg116Trp) rs1555696603
NM_004318.4(ASPH):c.1695C>A (p.Tyr565Ter) rs781508063
NM_004318.4(ASPH):c.1782G>A (p.Trp594Ter) rs749202132
NM_004595.5(SMS):c.152A>G (p.Tyr51Cys) rs2147508108
NM_005932.4(MIPEP):c.1259T>C (p.Leu420Pro) rs1869287041
NM_006494.4(ERF):c.22+2T>G rs2146960176
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_013275.6(ANKRD11):c.4140_4141del (p.Tyr1380_Lys1381delinsTer)
NM_014915.3(ANKRD26):c.-116C>T rs1589393739
NM_021968.4(H4C11):c.106C>T (p.Arg36Trp)
NM_024747.6(HPS6):c.1030G>T (p.Glu344Ter) rs2067971306
NM_078480.3(PUF60):c.1459T>C (p.Cys487Arg) rs2130205866
NM_078480.3(PUF60):c.672dup (p.Phe225fs) rs2130247180
NM_078480.3(PUF60):c.848_849del (p.Ala283fs) rs2130242336
NM_078629.4(MSL3):c.1171+2T>A rs2147247578
NM_181672.3(OGT):c.307G>A (p.Gly103Arg) rs1556046834
NM_206937.2(LIG4):c.2401_2410del (p.Tyr801fs) rs2138967445

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.