ClinVar Miner

List of variants in gene POR reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00271
NM_001395413.1(POR):c.1208G>A (p.Arg403His) rs72557929 0.00016
NM_001395413.1(POR):c.1255T>G (p.Trp419Gly) rs536353066 0.00014
NM_001395413.1(POR):c.1933G>A (p.Asp645Asn) rs372930296 0.00009
NM_001395413.1(POR):c.1346C>T (p.Pro449Leu) rs72557935 0.00003
NM_001395413.1(POR):c.162C>G (p.Phe54Leu) rs927062544 0.00003
NM_001395413.1(POR):c.1789C>T (p.Arg597Trp) rs72557950 0.00003
NM_001395413.1(POR):c.1396C>G (p.Pro466Ala) rs558340290 0.00002
NM_001395413.1(POR):c.545A>G (p.Asn182Ser) rs782763044 0.00002
NM_001395413.1(POR):c.115A>G (p.Thr39Ala) rs1787574873
NM_001395413.1(POR):c.1405G>C (p.Val469Leu) rs72557946
NM_001395413.1(POR):c.1721T>C (p.Leu574Pro) rs56256515
NM_001395413.1(POR):c.349T>C (p.Tyr117His) rs1554557326

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