ClinVar Miner

List of variants studied for HELLP syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.89427986_90240473dup
NC_000002.11:g.89427986_91820358dup
NC_000007.13:g.61994170_62729224dup
NM_000719.6(CACNA1C):c.477+16040_477+23328del
NM_000762.5(CYP2A6):c.-22817_-420del
NM_001001924.2(MTUS1):c.2288-795_2449+390del
NM_001004708.1(OR4D6):c.-19514_20175del
NM_001008392.1(CTDSPL):c.80-8666_80-2299del
NM_001010848.3(NRG3):c.824-173790_824-159316del
NM_001025616.2(ARHGAP24):c.-186452_-21+35669dup
NM_001145728.2(LMNTD1):c.*22+2227_*22+7996del
NM_001164405.1(BHLHA9):c.-56867_66089del
NM_001244606.1(IMMP2L):c.239+53584_239+101346del
NM_001267803.1(PAAF1):c.*451_*70114dup
NM_001282805.1(MARCH7):c.-247472_-1723dup
NM_002531.2(NTSR1):c.*2254_*20847del
NM_005100.4(AKAP12):c.163-8647_163-5271del
NM_014932.4(NLGN1):c.-320-82616_-320-21032dup
NM_015194.2(MYO1D):c.2865-44956_2865-37036del
NM_016329.4(SFMBT1):c.-130-31769_-130-30020del
NM_018012.4(KIF26B):c.1166+53868_1166+59172del
NM_018557.2(LRP1B):c.344-65793_344-61550del
NM_021156.3(TMX4):c.*826_*5132dup
NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_024795.3(TM4SF20):c.-14304_183+492dup
NM_139265.3(EHD4):c.*803_*33733dup
NM_144682.5(SLFN13):c.2109_*83579del
NM_152721.5(DOK6):c.67-22582_67-14452del
NR_002812.3(HCG26):n.-83887_14635dup
NR_031714.1(MIR1324):n.-251239_47012del
NR_037466.1(MIR3180-4):n.-250198_93962del
NR_110592.1(LINC01238):n.972-495_131503del
NR_125764.1(LINC01322):n.201-50931_201-19041del
NR_135237.1(LOC730100):n.754-62628_754-62323del rs1553354646
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.