ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr) rs3212977 0.00150
NM_001206999.2(CIT):c.5405C>T (p.Thr1802Met) rs180716474 0.00016
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg) rs374754187 0.00016
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala) rs767982852 0.00005
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser) rs63751279 0.00004
NM_022124.6(CDH23):c.1450-10G>A rs751220612 0.00004
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys) rs372337277 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp) rs781491587 0.00002
NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys) rs1333091798 0.00001
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys) rs1114167292 0.00001
NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter) rs1023630527 0.00001
NM_016239.4(MYO15A):c.4429C>T (p.Arg1477Cys) rs774077101 0.00001
NM_000180.4(GUCY2D):c.2978del (p.Met993fs) rs1598151437
NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro) rs773013563
NM_001139.3(ALOX12B):c.1958T>G (p.Phe653Cys) rs1598176834
NM_001206999.2(CIT):c.3350+5G>A rs1565958864
NM_001206999.2(CIT):c.4354A>C (p.Thr1452Pro) rs1593442207
NM_001378789.1(CERS3):c.530C>T (p.Ser177Phe) rs1178676096
NM_005876.5(SPEG):c.9028_9030del (p.Glu3010del) rs1575202038
NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met) rs371505143
NM_014956.5(CEP164):c.76G>A (p.Glu26Lys) rs1565416876
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val) rs1303667371
NM_018136.5(ASPM):c.10118GTT[1] (p.Cys3374del) rs1385075246
NM_020247.5(COQ8A):c.1867_1869dup (p.Leu623dup) rs1558212011
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe) rs1599633287
NM_021942.6(TRAPPC11):c.1208-5C>G rs185570336
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn) rs749894314
NM_033337.3(CAV3):c.302G>T (p.Trp101Leu) rs1575477812
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn) rs370608473
NM_144508.5(KNL1):c.2538A>C (p.Lys846Asn) rs1892588636
NM_153816.6(SNX14):c.1809A>G (p.Ala603=) rs1582696313

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