ClinVar Miner

List of variants reported as not provided for not provided by ClinVar Staff, National Center for Biotechnology Information (NCBI)

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000278.5(PAX2):c.909A>C (p.Pro303=) rs1800898 0.40586
NM_000278.5(PAX2):c.798C>T (p.Asn266=) rs1800897 0.12916
NM_000278.5(PAX2):c.932C>T (p.Ala311Val) rs78738655 0.00126
NM_020485.8(RHCE):c.307C>T (p.Pro103Ser) rs676785 0.00006
NM_020485.8(RHCE):c.178C>A (p.Leu60Ile) rs181860403 0.00004
NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser) rs80338782
NM_000278.3(PAX2):c.44_46delCAG
NM_000278.5(PAX2):c.115_120del (p.Gln39_Arg40del) rs74676646
NM_000278.5(PAX2):c.59del (p.Val20fs) rs76803183
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter) rs76492282
NM_000278.5(PAX2):c.68del (p.Leu23fs) rs75999420
NM_000278.5(PAX2):c.706C>T (p.Gln236Ter) rs75399846
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.832del (p.Asp278fs) rs78914041
NM_000442.5(PECAM1):c.373G>C (p.Val125Leu) rs281865545
NM_000486.6(AQP2):c.647C>T (p.Ser216Phe) rs199422215
NM_000518.5(HBB):c.435G>T (p.Lys145Asn) rs35020585
NM_000552.5(VWF):c.221-977_532+7059del
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs) rs1557135314
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) rs61749751
NM_003466.4(PAX8):c.165T>G (p.His55Gln) rs121908742
NM_004530.6(MMP2):c.1217G>A (p.Gly406Asp) rs121908741
NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg) rs137853969
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter) rs199474695
NM_014363.6(SACS):c.5263_5264del (p.Lys1755fs) rs199474696
NM_017866.6(TMEM70):c.494G>A (p.Gly165Asp) rs121908743
NM_139276.3(STAT3):c.1140-2A>C rs137854908

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.