List of variants in gene ITCH reported by CeGaT Center for Human Genetics Tuebingen

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_031483.7(ITCH):c.1146A>G (p.Gln382=)	rs141828786	0.00526
NM_031483.7(ITCH):c.2271C>T (p.Ile757=)	rs56366303	0.00143
NM_031483.7(ITCH):c.1980G>A (p.Leu660=)	rs147636046	0.00026
NM_031483.7(ITCH):c.828T>C (p.Pro276=)	rs373885533	0.00009
NM_031483.7(ITCH):c.1272A>G (p.Gln424=)	rs749700496	0.00006
NM_031483.7(ITCH):c.2505C>T (p.Asp835=)	rs140201242	0.00004
NM_031483.7(ITCH):c.228G>C (p.Val76=)	rs534487525	0.00001
NM_031483.7(ITCH):c.2004del (p.Glu669fs)	rs2146472496
NM_031483.7(ITCH):c.475+3257G>T
NM_031483.7(ITCH):c.475+3324T>C
NM_031483.7(ITCH):c.475+3343G>A
NM_031483.7(ITCH):c.70+3385C>T
NM_031483.7(ITCH):c.70+3424G>A

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