ClinVar Miner

List of variants studied for encephalomalacia

Included ClinVar conditions (5):

Cleft upper lip; Cognitive impairment; Median cleft upper lip; Bifid ribs; Asymmetry of the thorax; Periventricular leukomalacia; Cleft palate
Congenital cerebellar hypoplasia; Seizure; Absent speech; Microcephaly; Periventricular leukomalacia; Severe global developmental delay
Global developmental delay; Hypoplasia of the corpus callosum; Abnormal cerebral white matter morphology; Periventricular leukomalacia; Delayed myelination; Hypotonia
Growth delay; Delayed speech and language development; Intellectual disability; Periventricular leukomalacia; Atrophy/Degeneration affecting the brainstem; Corneal opacity; Delayed myelination
Seizure; Hypospadias; Tracheomalacia; Abnormal facial shape; Delayed speech and language development; Intellectual disability, moderate; Periventricular leukomalacia; Hypotonia; Encephalomalacia

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

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)	rs370932895	0.00048
NM_012424.6(RPS6KC1):c.2710G>A (p.Gly904Ser)	rs61751035	0.00001
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly)	rs375761808
NM_020533.3(MCOLN1):c.378C>G (p.Tyr126Ter)	rs1057518782
NM_020533.3(MCOLN1):c.777+1G>C	rs1057518781
NM_172230.3(SYVN1):c.38C>T (p.Ala13Val)
NM_172230.3(SYVN1):c.68A>G (p.Tyr23Cys)
Single allele

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