List of variants in gene POR reported as uncertain significance for autosomal recessive disease

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

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)	rs145782750	0.00106
NM_001395413.1(POR):c.1208G>A (p.Arg403His)	rs72557929	0.00016
NM_001395413.1(POR):c.1465G>A (p.Val489Met)	rs377451454	0.00006
NM_001395413.1(POR):c.311G>A (p.Arg104His)	rs782776557	0.00004
NM_001395413.1(POR):c.205T>C (p.Phe69Leu)	rs782107314	0.00003
NM_001395413.1(POR):c.821+2dup	rs886062440	0.00003
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)	rs370645073	0.00001
NM_001395413.1(POR):c.*147CTC[1]	rs886062444
NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
NM_001395413.1(POR):c.1577C>T (p.Thr526Met)	rs782248163

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