ClinVar Miner

List of variants reported as benign for X-linked disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP
NM_000047.2(ARSL):c.1270G>A (p.Gly424Ser) rs35143646
NM_000047.2(ARSL):c.157A>G (p.Ile53Val) rs61733256
NM_000047.2(ARSL):c.430+8C>T rs56393981
NM_000047.2(ARSL):c.548G>A (p.Arg183His) rs34412194
NM_000047.2(ARSL):c.549C>T (p.Arg183=) rs5982618
NM_000047.3(ARSL):c.-14_-13GA[3] rs200332753
NM_000047.3(ARSL):c.897C>T (p.His299=) rs148471739
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.685-14T>A rs80111449
NM_000132.3(F8):c.*29C>T rs5986887
NM_000132.3(F8):c.1010-27G>A rs7058826
NM_000132.3(F8):c.1086G>A (p.Ala362=) rs1800289
NM_000132.3(F8):c.1444-22T>C rs5986899
NM_000132.3(F8):c.1866T>C (p.Leu622=) rs1800290
NM_000132.3(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000132.3(F8):c.3864A>C (p.Ser1288=) rs1800292
NM_000132.3(F8):c.389-9C>T rs35621875
NM_000132.3(F8):c.4500G>A (p.Pro1500=) rs33921347
NM_000132.3(F8):c.5493C>G (p.Thr1831=) rs1603432997
NM_000132.3(F8):c.6769A>G (p.Met2257Val) rs1800297
NM_000132.3(F8):c.6849C>T (p.Ser2283=) rs1319284046
NM_000307.5(POU3F4):c.708= (p.Glu236=) rs5921978
NM_000307.5(POU3F4):c.708_710= (p.Glu236_Ala237=)
NM_000307.5(POU3F4):c.710= (p.Ala237=) rs5921979
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995
NM_000390.4(CHM):c.1511-6del rs775072539
NM_000390.4(CHM):c.265A>T (p.Ser89Cys) rs145707160
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.6(OTC):c.299-8T>A rs73196229
NM_000531.6(OTC):c.718-14T>C rs55722856
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000531.6(OTC):c.867+35T>G rs62622415
NM_001167.3(XIAP):c.769C>G (p.Pro257Ala) rs138783302
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595
NM_003477.3(PDHX):c.957G>A (p.Leu319=) rs36047324
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) rs148700620
NM_004550.4(NDUFS2):c.58C>A (p.Pro20Thr) rs11538340
NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) rs77113494
NM_004553.4(NDUFS6):c.-12C>T rs145747389
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892
NM_005006.7(NDUFS1):c.154-11_154-9del rs568965659
NM_005629.4(SLC6A8):c.-5A>G rs384573
NM_014165.4(NDUFAF4):c.40C>A (p.Leu14Ile) rs145392673
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) rs139219896
NM_024120.5(NDUFAF5):c.222+9_222+10insGCGGGGCGGCGGGGCG rs1600306218
NM_033380.3(COL4A5):c.1033-15del rs104886089
NM_033380.3(COL4A5):c.2768-11A>G rs1006269
NM_033380.3(COL4A5):c.609+21T>C rs6622333
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573

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