ClinVar Miner

Variants from Kasturba Medical College,Manipal University

Location: India — Primary collection method: research
Minimum submission review status: Collection method:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association total
12 4 7 0 0 1 24

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance association total
MITF 3 1 0 0 4
EDNRB 1 0 1 0 2
PAX3 1 1 0 0 2
POLR2F, SOX10 1 0 1 0 2
ADGRV1 1 0 0 0 1
AIMP2 0 0 1 0 1
ANKRD54, C22orf23, EIF3L, GALR3, GCAT, H1F0, MICALL1, MIR658, MIR659, MIR6820, POLR2F, SOX10 1 0 0 0 1
EDN3 0 1 0 0 1
GJB2 1 0 0 0 1
ISCA1 1 0 0 0 1
KIF26A 0 0 0 1 1
KLHL7 0 0 1 0 1
MGME1 1 0 0 0 1
PIBF1 0 0 1 0 1
PTH1R 0 0 1 0 1
PTH2R 0 1 0 0 1
SNX14 1 0 0 0 1
TYR 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance association total
Waardenburg syndrome type 1 1 1 0 0 2
Waardenburg syndrome type 2A 2 0 0 0 2
Waardenburg syndrome type 2E 1 0 1 0 2
Waardenburg syndrome type 4A 1 0 1 0 2
Cold-induced sweating syndrome 3 0 0 1 0 1
Congenital sensorineural hearing impairment 1 0 0 0 1
Deafness, autosomal recessive 1A 1 0 0 0 1
Eiken skeletal dysplasia 0 0 1 0 1
Hereditary spastic paraplegia 0 0 0 1 1
Joubert syndrome 0 0 1 0 1
Mitochondrial DNA depletion syndrome 11 1 0 0 0 1
Multiple mitochondrial dysfunctions syndrome 1 0 0 0 1
Neurodevelopmental abnormality 0 0 1 0 1
Oculocutaneous albinism 0 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 20 1 0 0 0 1
Syndromic intellectual disability 0 1 0 0 1
Tietz syndrome; Waardenburg syndrome type 2A 0 1 0 0 1
Usher syndrome, type 2C 1 0 0 0 1
Waardenburg syndrome type 4B 0 1 0 0 1
Waardenburg syndrome type 4C 1 0 0 0 1

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