List of variants in gene TMPO reported as uncertain significance by Ambry Genetics

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

Total variants: 128

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HGVS	dbSNP	gnomAD frequency
NM_001032283.3(TMPO):c.565+2149C>T	rs34150443	0.00064
NM_001032283.3(TMPO):c.565+2368G>A	rs138295270	0.00058
NM_001032283.3(TMPO):c.565+1617A>G	rs771185259	0.00008
NM_001032283.3(TMPO):c.565+1317C>T	rs376074187	0.00006
NM_001032283.3(TMPO):c.565+1328G>T	rs369208265	0.00006
NM_001032283.3(TMPO):c.565+2196A>G	rs369840957	0.00006
NM_001032283.3(TMPO):c.565+1107C>T	rs750751621	0.00005
NM_001032283.3(TMPO):c.128A>G (p.Gln43Arg)	rs371427406	0.00004
NM_001032283.3(TMPO):c.565+1310G>C	rs779961791	0.00004
NM_001032283.3(TMPO):c.1237G>T (p.Val413Leu)	rs115843977	0.00003
NM_001032283.3(TMPO):c.331G>C (p.Asp111His)	rs201838047	0.00003
NM_001032283.3(TMPO):c.565+1917A>G	rs727505217	0.00003
NM_001032283.3(TMPO):c.565+2247C>T	rs369379490	0.00003
NM_001032283.3(TMPO):c.565+2268A>T	rs759832690	0.00003
NM_001032283.3(TMPO):c.565+1246T>C	rs144465114	0.00002
NM_001032283.3(TMPO):c.565+1597T>C	rs1227785613	0.00002
NM_001032283.3(TMPO):c.565+2095A>C	rs557983360	0.00002
NM_001032283.3(TMPO):c.565+2137A>G	rs886049913	0.00002
NM_001032283.3(TMPO):c.70A>C (p.Asn24His)	rs727505279	0.00002
NM_001032283.3(TMPO):c.154C>T (p.Pro52Ser)	rs767796798	0.00001
NM_001032283.3(TMPO):c.289A>G (p.Lys97Glu)	rs778356103	0.00001
NM_001032283.3(TMPO):c.392C>G (p.Pro131Arg)	rs1001615865	0.00001
NM_001032283.3(TMPO):c.517A>G (p.Arg173Gly)	rs1430201856	0.00001
NM_001032283.3(TMPO):c.565+1104A>C	rs764732034	0.00001
NM_001032283.3(TMPO):c.565+1137G>A	rs375903462	0.00001
NM_001032283.3(TMPO):c.565+1165G>C	rs191275106	0.00001
NM_001032283.3(TMPO):c.565+1297C>T	rs560525921	0.00001
NM_001032283.3(TMPO):c.565+1305T>G	rs201730568	0.00001
NM_001032283.3(TMPO):c.565+1318A>G	rs754640974	0.00001
NM_001032283.3(TMPO):c.565+1392A>G	rs747786976	0.00001
NM_001032283.3(TMPO):c.565+1396T>C	rs886038774	0.00001
NM_001032283.3(TMPO):c.565+1471C>T	rs779303657	0.00001
NM_001032283.3(TMPO):c.565+1567C>T	rs202166461	0.00001
NM_001032283.3(TMPO):c.565+1576T>C	rs747232440	0.00001
NM_001032283.3(TMPO):c.565+1623C>G	rs902009254	0.00001
NM_001032283.3(TMPO):c.565+1662T>G	rs200367787	0.00001
NM_001032283.3(TMPO):c.565+1805A>C	rs767027388	0.00001
NM_001032283.3(TMPO):c.565+1949C>G	rs750502531	0.00001
NM_001032283.3(TMPO):c.565+1968G>A	rs1051007448	0.00001
NM_001032283.3(TMPO):c.565+2092C>A	rs563175204	0.00001
NM_001032283.3(TMPO):c.565+2260C>T	rs367769644	0.00001
NM_001032283.3(TMPO):c.565+2409T>G	rs759247844	0.00001
NM_001032283.3(TMPO):c.565+2431C>G	rs1435432542	0.00001
NM_001032283.3(TMPO):c.565+2488G>A	rs779219922	0.00001
NM_001032283.3(TMPO):c.565+996G>A	rs1276631548	0.00001
NM_001032283.3(TMPO):c.565+999C>T	rs138259721	0.00001
NM_001032283.3(TMPO):c.-1G>C
NM_001032283.3(TMPO):c.116A>G (p.Gln39Arg)
NM_001032283.3(TMPO):c.1225C>T (p.Arg409Cys)
NM_001032283.3(TMPO):c.152C>T (p.Pro51Leu)
NM_001032283.3(TMPO):c.176G>T (p.Ser59Ile)
NM_001032283.3(TMPO):c.26C>T (p.Ser9Leu)
NM_001032283.3(TMPO):c.308G>A (p.Arg103Lys)
NM_001032283.3(TMPO):c.333T>A (p.Asp111Glu)
NM_001032283.3(TMPO):c.337A>G (p.Thr113Ala)
NM_001032283.3(TMPO):c.386T>G (p.Val129Gly)
NM_001032283.3(TMPO):c.394G>C (p.Gly132Arg)
NM_001032283.3(TMPO):c.400A>C (p.Ile134Leu)
NM_001032283.3(TMPO):c.454C>G (p.Gln152Glu)
NM_001032283.3(TMPO):c.464A>G (p.Glu155Gly)
NM_001032283.3(TMPO):c.479C>T (p.Thr160Ile)
NM_001032283.3(TMPO):c.497C>G (p.Ser166Cys)	rs147012167
NM_001032283.3(TMPO):c.539C>T (p.Ser180Phe)
NM_001032283.3(TMPO):c.565+1005A>G
NM_001032283.3(TMPO):c.565+1009T>C
NM_001032283.3(TMPO):c.565+1012A>C	rs1877291034
NM_001032283.3(TMPO):c.565+1014T>G
NM_001032283.3(TMPO):c.565+1017A>G
NM_001032283.3(TMPO):c.565+1026A>G	rs1447801243
NM_001032283.3(TMPO):c.565+1029G>A
NM_001032283.3(TMPO):c.565+1063G>T
NM_001032283.3(TMPO):c.565+1095G>C
NM_001032283.3(TMPO):c.565+1113C>T
NM_001032283.3(TMPO):c.565+1114C>A
NM_001032283.3(TMPO):c.565+1169C>G
NM_001032283.3(TMPO):c.565+1192C>G
NM_001032283.3(TMPO):c.565+1278T>C
NM_001032283.3(TMPO):c.565+1348C>T
NM_001032283.3(TMPO):c.565+1361T>G	rs185083543
NM_001032283.3(TMPO):c.565+1383T>C
NM_001032283.3(TMPO):c.565+1410G>A
NM_001032283.3(TMPO):c.565+1411G>A
NM_001032283.3(TMPO):c.565+1474C>T
NM_001032283.3(TMPO):c.565+1509G>C
NM_001032283.3(TMPO):c.565+1510A>T
NM_001032283.3(TMPO):c.565+1555A>G
NM_001032283.3(TMPO):c.565+1582G>A
NM_001032283.3(TMPO):c.565+1584G>T
NM_001032283.3(TMPO):c.565+1598G>T
NM_001032283.3(TMPO):c.565+1603G>A
NM_001032283.3(TMPO):c.565+1609C>G
NM_001032283.3(TMPO):c.565+1620C>T
NM_001032283.3(TMPO):c.565+1633T>C
NM_001032283.3(TMPO):c.565+1671C>G
NM_001032283.3(TMPO):c.565+1713C>G
NM_001032283.3(TMPO):c.565+1717G>C	rs1060499573
NM_001032283.3(TMPO):c.565+1724G>C
NM_001032283.3(TMPO):c.565+1728G>T
NM_001032283.3(TMPO):c.565+1729T>G
NM_001032283.3(TMPO):c.565+1774C>T
NM_001032283.3(TMPO):c.565+1777G>C
NM_001032283.3(TMPO):c.565+1798T>C
NM_001032283.3(TMPO):c.565+1828C>G
NM_001032283.3(TMPO):c.565+1873T>C	rs1238424266
NM_001032283.3(TMPO):c.565+1908T>C
NM_001032283.3(TMPO):c.565+1924T>C
NM_001032283.3(TMPO):c.565+2013T>C
NM_001032283.3(TMPO):c.565+2029A>G
NM_001032283.3(TMPO):c.565+2041T>C
NM_001032283.3(TMPO):c.565+2116A>G
NM_001032283.3(TMPO):c.565+2136T>G
NM_001032283.3(TMPO):c.565+2170C>T
NM_001032283.3(TMPO):c.565+2176C>T
NM_001032283.3(TMPO):c.565+2179C>T
NM_001032283.3(TMPO):c.565+2251C>T
NM_001032283.3(TMPO):c.565+2279A>C
NM_001032283.3(TMPO):c.565+2299A>G	rs766232053
NM_001032283.3(TMPO):c.565+2311C>T	rs886039168
NM_001032283.3(TMPO):c.565+2325G>A
NM_001032283.3(TMPO):c.565+2346A>G	rs1565812255
NM_001032283.3(TMPO):c.565+2425C>G
NM_001032283.3(TMPO):c.565+2446G>A
NM_001032283.3(TMPO):c.565+2469T>A
NM_001032283.3(TMPO):c.565+2472A>G
NM_001032283.3(TMPO):c.629T>A (p.Val210Glu)
NM_001032283.3(TMPO):c.77C>G (p.Thr26Arg)
NM_001032283.3(TMPO):c.85G>T (p.Ala29Ser)
NM_001032283.3(TMPO):c.88G>C (p.Gly30Arg)	rs1555201569

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