ClinVar Miner

List of variants studied for POLR3-related leukodystrophy by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (11):

Hypogonadotropic hypogonadism 7 with or without anosmia; Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome; Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Hypomyelinating leukodystrophy 11
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism; Charcot-Marie-Tooth disease, demyelinating, IIA 1I
Leukodystrophy, hypomyelinating, 21
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome; Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism; Charcot-Marie-Tooth disease, demyelinating, IIA 1I
Neonatal pseudo-hydrocephalic progeroid syndrome; Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
Neonatal pseudo-hydrocephalic progeroid syndrome; Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome; Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
POLR3-related leukodystrophy
Treacher Collins syndrome 3; Hypomyelinating leukodystrophy 11

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_007055.4(POLR3A):c.3388G>A (p.Val1130Ile)	rs199581222	0.00006
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser)	rs1057519455	0.00001
NM_203290.4(POLR1C):c.614del (p.Gly205fs)	rs1057519456

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