ClinVar Miner

Variants from Endocrinology Clinic, Seth G.S. Medical College

Location: India  Primary collection method: research
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
15 19 0 0 0 1 35

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic not provided total
GHRHR 2 3 0 5
FGFR1 4 0 0 4
GNRHR 4 0 0 4
LOC107303340, VHL 0 4 0 4
POU1F1 2 2 0 4
SDHB 0 4 0 4
ANOS1 2 0 0 2
FGF8 0 2 0 2
PROP1 0 2 0 2
​intergenic 1 0 0 1
KISS1R 0 0 1 1
SDHD 0 1 0 1
VHL 0 1 0 1

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic not provided total
Pheochromocytoma 0 10 0 10
Isolated growth hormone deficiency type IB 3 3 0 6
Hypogonadotropic hypogonadism 2 with or without anosmia 4 0 0 4
Hypogonadotropic hypogonadism 7 with or without anosmia 4 0 0 4
Pituitary hormone deficiency, combined, 1 2 2 0 4
Hypogonadotropic hypogonadism 1 with or without anosmia 2 0 0 2
Hypogonadotropic hypogonadism 6 with or without anosmia 0 2 0 2
Pituitary hormone deficiency, combined, 2 0 2 0 2
not provided 0 0 1 1

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