List of variants in gene POR 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001395413.1(POR):c.*51C>T	rs41302345	0.00770
NM_001395413.1(POR):c.508-4G>A	rs41299496	0.00462
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)	rs145782750	0.00106
NM_001395413.1(POR):c.678C>T (p.Ala226=)	rs72557906	0.00089
NM_001395413.1(POR):c.633-5C>G	rs72555509	0.00047
NM_001395413.1(POR):c.1191G>A (p.Ser397=)	rs372401863	0.00010
NM_001395413.1(POR):c.1182G>A (p.Ser394=)	rs72557928
NM_001395413.1(POR):c.1482G>A (p.Leu494=)	rs370326231
NM_001395413.1(POR):c.156C>T (p.Pro52=)	rs782368623
NM_001395413.1(POR):c.1605C>T (p.Thr535=)
NM_001395413.1(POR):c.549C>T (p.Ala183=)
NM_001395413.1(POR):c.753C>T (p.Thr251=)

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