ClinVar Miner

List of variants in gene POR studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.1446T>C (p.Ala482=) rs2228104 0.86727
NM_001395413.1(POR):c.1058-13C>G rs4732516 0.84641
NM_001395413.1(POR):c.1390-34T>C rs2302431 0.84626
NM_001395413.1(POR):c.1390-33G>T rs2302432 0.84588
NM_001395413.1(POR):c.1239+12C>T rs2286822 0.27856
NM_001395413.1(POR):c.378A>G (p.Pro126=) rs1135612 0.20982
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_001395413.1(POR):c.508-14_508-13del rs72557912 0.00363
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.1816C>T (p.Gln606Ter) rs782261248 0.00006
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_001395413.1(POR):c.1640G>A (p.Arg547Gln) rs1320059073 0.00004
NM_001395413.1(POR):c.311G>A (p.Arg104His) rs782776557 0.00004
NM_001395413.1(POR):c.723-2A>T rs782343026 0.00004
NM_001395413.1(POR):c.205T>C (p.Phe69Leu) rs782107314 0.00003
NM_001395413.1(POR):c.560A>G (p.Tyr187Cys) rs782681272 0.00003
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg) rs121912976 0.00002
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu) rs370645073 0.00001
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys) rs72557954 0.00001
NM_001395413.1(POR):c.821+2dup rs886062440 0.00001
NM_001395413.1(POR):c.*147CTC[1] rs886062444
NM_001395413.1(POR):c.1320dup (p.Ile441fs) rs786205875
NM_001395413.1(POR):c.1390-34_1390-33delinsCT
NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter) rs373613946
NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
NM_001395413.1(POR):c.1466T>A (p.Val489Glu) rs28931606
NM_001395413.1(POR):c.1477T>C (p.Trp493Arg) rs2116630442
NM_001395413.1(POR):c.1484G>C (p.Arg495Pro)
NM_001395413.1(POR):c.1577C>T (p.Thr526Met) rs782248163
NM_001395413.1(POR):c.1660+1G>A
NM_001395413.1(POR):c.1724A>G (p.Tyr575Cys) rs121912975
NM_001395413.1(POR):c.1826_1849del (p.Leu609_Trp617delinsArg) rs786205876
NM_001395413.1(POR):c.559_571dup (p.Arg191fs) rs786205878
NM_001395413.1(POR):c.722+1G>A rs786205099

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