ClinVar Miner

List of variants in gene JPH3 studied for Huntington disease and related disorders

Included ClinVar conditions (18):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_020655.4(JPH3):c.1398T>C (p.Thr466=)	rs78661943	0.00194
NM_020655.4(JPH3):c.626G>C (p.Ser209Thr)	rs144296512	0.00143
NM_020655.4(JPH3):c.2101dup (p.Gln701fs)
NM_020655.4(JPH3):c.955C>T (p.Arg319Trp)	rs148131421

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