ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.1707G>A (p.Ser569=) rs1057870 0.28425
NM_001395413.1(POR):c.1499C>T (p.Ala500Val) rs1057868 0.26722
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_001395413.1(POR):c.360C>T (p.Ala120=) rs41299490 0.00719
NM_001395413.1(POR):c.78G>A (p.Thr26=) rs41295381 0.00681
NM_001395413.1(POR):c.1889+3G>A rs41301439 0.00568
NM_001395413.1(POR):c.508-4G>A rs41299496 0.00462
NM_001395413.1(POR):c.508-14_508-13del rs72557912 0.00363
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00271
NM_001395413.1(POR):c.1239+28C>T rs72557932 0.00214
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.1806+12G>A rs371432868 0.00058
NM_001395413.1(POR):c.390C>T (p.Asn130=) rs181837747 0.00049
NM_001395413.1(POR):c.633-5C>G rs72555509 0.00047
NM_001395413.1(POR):c.1227C>T (p.Ser409=) rs41301424 0.00041
NM_001395413.1(POR):c.1512C>T (p.Gly504=) rs370823127 0.00029
NM_001395413.1(POR):c.1806+8G>A rs72557952 0.00024
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.1191G>A (p.Ser397=) rs372401863 0.00010
NM_001395413.1(POR):c.1509C>T (p.Asn503=) rs782397055 0.00010
NM_001395413.1(POR):c.1933G>A (p.Asp645Asn) rs372930296 0.00009
NM_001395413.1(POR):c.357+14G>A rs372941705 0.00009
NM_001395413.1(POR):c.420C>T (p.Tyr140=) rs368468521 0.00006
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.1173G>A (p.Gln391=) rs1220024534 0.00001
NM_001395413.1(POR):c.1390-9T>G rs1554559045 0.00001
NM_001395413.1(POR):c.1968G>A (p.Ala656=) rs782446980 0.00001
NM_001395413.1(POR):c.2013C>T (p.Tyr671=) rs1554559514 0.00001
NM_001395413.1(POR):c.115A>G (p.Thr39Ala) rs1787574873
NM_001395413.1(POR):c.1405G>A (p.Val469Met) rs72557946
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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