List of variants in gene STRA6 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_022369.4(STRA6):c.961A>C (p.Thr321Pro)	rs118203962	0.00041
NM_022369.4(STRA6):c.1931C>T (p.Thr644Met)	rs118203960	0.00004
NM_022369.4(STRA6):c.1963C>T (p.Arg655Cys)	rs118203959	0.00002
NM_022369.4(STRA6):c.1521-1G>A	rs397518484	0.00001
NM_022369.4(STRA6):c.1964G>A (p.Arg655His)	rs397514639	0.00001
NM_022369.4(STRA6):c.69G>A (p.Trp23Ter)	rs267607096	0.00001
NM_022369.4(STRA6):c.878C>T (p.Pro293Leu)	rs118203958	0.00001
NM_022369.4(STRA6):c.113+3_113+4del	rs1555457882
NM_022369.4(STRA6):c.147del (p.Gly50fs)	rs606231125
NM_022369.4(STRA6):c.1678G>C (p.Asp560His)	rs397514638
NM_022369.4(STRA6):c.269C>T (p.Pro90Leu)	rs118203961
NM_022369.4(STRA6):c.35_36dup (p.Gly13fs)	rs1555457919
NM_022369.4(STRA6):c.50_52delinsCC (p.Asp17fs)	rs606231126
NM_022369.4(STRA6):c.527dup (p.Ser177fs)	rs606231127
NM_022369.4(STRA6):c.910_911delinsAA (p.Gly304Lys)	rs151341424

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