List of variants in gene LDB3 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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: 34

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HGVS	dbSNP	gnomAD frequency
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr)	rs45539535	0.00054
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)	rs45487699	0.00049
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr)	rs45577134	0.00026
NM_007078.3(LDB3):c.794G>A (p.Arg265His)	rs45458895	0.00011
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln)	rs763908636	0.00008
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr)	rs774976112	0.00005
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys)	rs121908335	0.00004
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn)	rs748399477	0.00004
NM_007078.3(LDB3):c.306G>A (p.Val102=)	rs201715521	0.00004
NM_007078.3(LDB3):c.530C>T (p.Ala177Val)	rs397517224	0.00004
NM_007078.3(LDB3):c.1165G>A (p.Ala389Thr)	rs924634578	0.00003
NM_007078.3(LDB3):c.398C>T (p.Pro133Leu)	rs200239096	0.00003
NM_007078.3(LDB3):c.1435G>A (p.Gly479Arg)	rs370521488	0.00002
NM_007078.3(LDB3):c.1018G>C (p.Ala340Pro)	rs755329877	0.00001
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln)	rs150868546	0.00001
NM_007078.3(LDB3):c.139G>A (p.Asp47Asn)	rs397517212	0.00001
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val)	rs755362259	0.00001
NM_007078.3(LDB3):c.1870G>A (p.Ala624Thr)	rs879218802	0.00001
NM_007078.3(LDB3):c.2119C>T (p.Gln707Ter)	rs771316707	0.00001
NM_007078.3(LDB3):c.54G>T (p.Gln18His)	rs149348427	0.00001
NM_007078.3(LDB3):c.1305_1306delinsCC (p.Ala436Pro)	rs2132481671
NM_007078.3(LDB3):c.1353del (p.Thr452fs)	rs2132481963
NM_007078.3(LDB3):c.1609del (p.Gln537fs)	rs727503129
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His)	rs727503131
NM_007078.3(LDB3):c.1887G>A (p.Trp629Ter)	rs1846967202
NM_007078.3(LDB3):c.1892C>A (p.Thr631Asn)	rs1564658947
NM_007078.3(LDB3):c.1895C>A (p.Thr632Asn)	rs1195333947
NM_007078.3(LDB3):c.1898G>C (p.Cys633Ser)	rs2132487189
NM_007078.3(LDB3):c.2009A>G (p.His670Arg)	rs925120006
NM_007078.3(LDB3):c.218G>C (p.Ser73Thr)	rs1844992525
NM_007078.3(LDB3):c.36C>A (p.Pro12=)	rs1564626136
NM_007078.3(LDB3):c.400G>A (p.Gly134Ser)	rs2132371398
NM_007078.3(LDB3):c.5C>A (p.Ser2Tyr)	rs1564626030
NM_007078.3(LDB3):c.915G>A (p.Ala305=)	rs753526743

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