ClinVar Miner

List of variants reported as likely pathogenic by Breda Genetics srl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_001002029.4(C4B):c.3676+1G>A rs771378213 0.00004
NM_000152.5(GAA):c.2189+1G>T rs1209887739 0.00001
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His) rs779326725 0.00001
NM_001282717.2(STAG3):c.2776C>T (p.Arg926Ter) rs764841861 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_017654.4(SAMD9):c.1171G>T (p.Gly391Ter) rs1470207548 0.00001
NM_000338.3(SLC12A1):c.2805dup (p.Trp936fs) rs776749406
NM_000355.4(TCN2):c.700del (p.Gln234fs) rs2087597945
NM_000374.5(UROD):c.583_611del (p.Leu195fs) rs2148982945
NM_000426.4(LAMA2):c.4996C>T (p.Gln1666Ter) rs2114654019
NM_000444.6(PHEX):c.645_652del (p.Asn216fs) rs1929218157
NM_001009944.3(PKD1):c.290A>G (p.Asp97Gly) rs2092684310
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr) rs1013100046
NM_001160148.2(DDHD1):c.1842+1G>A rs2139861782
NM_001165963.4(SCN1A):c.1259C>A (p.Ala420Asp) rs794726826
NM_001282717.2(STAG3):c.1571del (p.Gln524fs) rs1800917478
NM_001330078.2(NRXN1):c.772+1128_772+1129del rs1558610072
NM_001348323.3(TRIP12):c.4838+2T>G rs2040714903
NM_001351169.2(NT5C2):c.1449+2T>C rs753295868
NM_001371986.1(UNC80):c.1357del (p.Arg453fs) rs1574574226
NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs) rs1575147319
NM_001846.4(COL4A2):c.4183C>T (p.Gln1395Ter)
NM_001943.5(DSG2):c.1015-2A>C rs2144332473
NM_002335.4(LRP5):c.1058G>A (p.Arg353Gln) rs2153153067
NM_002900.3(RBP3):c.1408del (p.Asp470fs) rs1836931186
NM_003482.4(KMT2D):c.12039_12046del (p.Ala4014fs) rs2120433403
NM_004187.5(KDM5C):c.2243+1G>T rs2073058023
NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys) rs1064794694
NM_005645.4(TAF13):c.204+1G>T rs2102105455
NM_005859.5(PURA):c.640G>T (p.Glu214Ter) rs1581036558
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) rs1560422383
NM_006306.4(SMC1A):c.1342_1348del (p.Ser448fs) rs2075702300
NM_006306.4(SMC1A):c.3490A>G (p.Asn1164Asp) rs868961188
NM_007175.8(ERLIN2):c.356A>G (p.Lys119Arg) rs1802974214
NM_014444.5(TUBGCP4):c.346del (p.His116fs) rs1196276711
NM_020699.4(GATAD2B):c.614del (p.Asn205fs)
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs) rs759415592
NM_024757.5(EHMT1):c.3627_3633dup (p.Val1212fs) rs1956455734
NM_030632.3(ASXL3):c.2801T>G (p.Leu934Ter) rs2067636699
NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter) rs2064355122
NM_144687.4(NLRP12):c.957del (p.Thr320fs)
NM_172107.4(KCNQ2):c.578C>T (p.Ala193Val) rs796052619
NM_182961.4(SYNE1):c.18382-1G>A rs762660111

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.