ClinVar Miner

List of variants studied for chromosome 10 disorder by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (8):

Chromosome 10q23 deletion syndrome
DeSanto-Shinawi syndrome due to WAC point mutation
DeSanto-Shinawi syndrome due to WAC point mutation; DeSanto-Shinawi syndrome
Distal 10q deletion syndrome
Distal monosomy 10p
Distal trisomy 10q
Hypoparathyroidism, deafness, renal disease syndrome
Split hand-foot malformation 3

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_001002295.2(GATA3):c.1001A>G (p.Asn334Ser)
NM_001002295.2(GATA3):c.52G>A (p.Val18Met)
NM_001002295.2(GATA3):c.924+3_924+6del

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