ClinVar Miner

List of variants in gene PRODH reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_016335.6(PRODH):c.1278C>T (p.Asp426=) rs16983466 0.20443
NM_016335.6(PRODH):c.1562G>A (p.Arg521Gln) rs450046 0.00287
NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu) rs3970555 0.00149
NM_016335.6(PRODH):c.517+19C>T rs370155847 0.00088
NM_016335.6(PRODH):c.1252-14C>T rs189009057 0.00073
NM_016335.6(PRODH):c.822C>T (p.Asp274=) rs146178333 0.00059
NM_016335.6(PRODH):c.1170C>T (p.Ile390=) rs552700874 0.00039
NM_016335.6(PRODH):c.1104+16C>T rs182795102 0.00037
NM_016335.6(PRODH):c.1465G>A (p.Ala489Thr) rs370003523 0.00036
NM_016335.6(PRODH):c.578G>A (p.Gly193Asp) rs199907923 0.00029
NM_016335.6(PRODH):c.1401C>T (p.Tyr467=) rs200018716 0.00028
NM_016335.6(PRODH):c.606C>T (p.Tyr202=) rs149344100 0.00023
NM_016335.6(PRODH):c.780A>G (p.Gln260=) rs202042437 0.00022
NM_016335.6(PRODH):c.1729C>T (p.Arg577Trp) rs184218784 0.00020
NM_016335.6(PRODH):c.1143C>T (p.Ala381=) rs560442727 0.00017
NM_016335.6(PRODH):c.930-1G>C rs751149776 0.00017
NM_016335.6(PRODH):c.319A>G (p.Lys107Glu) rs140129512 0.00014
NM_016335.6(PRODH):c.873C>T (p.Ile291=) rs146652616 0.00014
NM_016335.6(PRODH):c.174G>T (p.Ala58=) rs931875471 0.00009
NM_016335.6(PRODH):c.392G>A (p.Arg131Gln) rs145456430 0.00007
NM_016335.6(PRODH):c.1093G>A (p.Val365Ile) rs768237039 0.00006
NM_016335.6(PRODH):c.1295G>A (p.Arg432His) rs143011525 0.00006
NM_016335.6(PRODH):c.1181C>T (p.Thr394Met) rs777930066 0.00005
NM_016335.6(PRODH):c.518-11C>T rs112526442 0.00004
NM_016335.6(PRODH):c.391C>T (p.Arg131Trp) rs753625227 0.00003
NM_016335.6(PRODH):c.1763G>A (p.Arg588Lys) rs1239323884 0.00002
NM_016335.6(PRODH):c.1615+1G>C rs745902339 0.00001
GRCh37/hg19 22q11.21(chr22:18900294-18923806)
GRCh37/hg19 22q11.21(chr22:18900895-18923882)
NM_016335.6(PRODH):c.1163C>T (p.Pro388Leu) rs147233639
NM_016335.6(PRODH):c.130_156del (p.Thr44_Ala52del) rs949036081
NM_016335.6(PRODH):c.1402G>A (p.Glu468Lys) rs372618210
NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter) rs372187772
NM_016335.6(PRODH):c.1623C>G (p.Ala541=) rs16983347
NM_016335.6(PRODH):c.1772G>A (p.Arg591Gln) rs779412444
NM_016335.6(PRODH):c.268G>A (p.Glu90Lys) rs1023813331
NM_016335.6(PRODH):c.270G>A (p.Glu90=) rs562699700
NM_016335.6(PRODH):c.54C>T (p.Val18=) rs1032634465
NM_016335.6(PRODH):c.803C>T (p.Ala268Val) rs375358521
NM_016335.6(PRODH):c.87G>A (p.Gln29=) rs1417739533
NM_016335.6(PRODH):c.90C>T (p.Pro30=) rs2146224247
NM_016335.6(PRODH):c.930-15C>T rs201272622

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