ClinVar Miner

List of variants studied for autosomal recessive disease by Reproductive Health Research and Development, BGI Genomics

Included ClinVar conditions (1204):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.60+62C>T rs1522296 0.34408
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala) rs3212989 0.02148
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068 0.00859
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_001171.6(ABCC6):c.3883-24G>A rs59513011 0.00475
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001171.6(ABCC6):c.*38G>A rs59461468 0.00206
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_031307.4(PUS3):c.-47+3170T>C rs104894232 0.00103
NM_001171.6(ABCC6):c.600+23C>T rs72664290 0.00101
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_000392.5(ABCC2):c.1967+1G>A rs146405172 0.00078
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
NM_003805.5(CRADD):c.509G>A (p.Arg170His) rs141179774 0.00053
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile) rs72653792 0.00044
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00006
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_006846.4(SPINK5):c.2468del (p.Lys823fs) rs565782662
NM_024824.5(ZC3H14):c.2204+17_2204+41del rs571303442
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329

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.