ClinVar Miner

List of variants studied for astigmatism

Included ClinVar conditions (10):

Astigmatism; Autistic behavior; Myopia; Impaired social interactions; Aplasia/Hypoplasia of the inner ear
Astigmatism; Congenital ocular coloboma; Patent foramen ovale; Premature birth; Abnormality of the face
Astigmatism; Cystoid macular edema; Abnormal electroretinogram; Pigmentary retinopathy; Dyschromatopsia; Abnormality of retinal pigmentation; Electronegative electroretinogram
Astigmatism; Epicanthus; Cryptorchidism; Hypertelorism; Esotropia; Global developmental delay; Retrognathia; Hypermetropia; Wide nasal bridge; Intellectual disability
Astigmatism; Global developmental delay; Failure to thrive; Micrognathia; Thin vermilion border; Narrow mouth; Anxiety; Attention deficit hyperactivity disorder
Astigmatism; Hamartoma of hypothalamus; Global developmental delay; Nystagmus; Hypermetropia; Opsoclonus
Astigmatism; Leukodystrophy; Motor delay; Seizure; Short stature; Hypermetropia; Delayed speech and language development; Open mouth; Microcephaly; Strabismus; Amblyopia; EEG with generalized slow activity; Allergy
Astigmatism; Microphthalmia; Deeply set eye; Hypermetropia; Microcephaly; Trichiasis; Progeroid facial appearance; Anisometropia; Psychomotor retardation
Astigmatism; Motor delay; Delayed speech and language development; Joint hypermobility; Long fingers
Astigmatism; Velopharyngeal insufficiency; Inguinal hernia; Feeding difficulties; Vomiting; Umbilical hernia; Speech articulation difficulties; Ectopic thymus tissue; Abnormal soft palate morphology

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1
GRCh37/hg19 22q11.21(chr22:18894835-20311763)
GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)
GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn)	rs876661151
NM_001105539.3(ZBTB10):c.466C>T (p.Arg156Ter)	rs2131466699
NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)	rs1554163965
NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu)	rs1556619324
NM_005916.5(MCM7):c.133C>T (p.Gln45Ter)
NM_005916.5(MCM7):c.776G>C (p.Gly259Ala)	rs758105856
NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter)	rs1114167291
NM_144643.4(SCLT1):c.1043del (p.Ser348fs)
NM_144643.4(SCLT1):c.2060dup (p.Asn687fs)

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