List of variants in gene MRE11 reported as likely pathogenic 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: 41

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HGVS	dbSNP	gnomAD frequency
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs)	rs587781442	0.00007
NM_005591.4(MRE11):c.1867+2T>C	rs745677716	0.00002
NM_005591.4(MRE11):c.402+1G>A	rs929767929	0.00002
NM_005591.4(MRE11):c.545-1G>A	rs1451215042	0.00002
NM_005591.4(MRE11):c.1225+2T>C	rs145058858	0.00001
NM_005591.4(MRE11):c.1326+2T>G	rs1475506136	0.00001
NM_005591.4(MRE11):c.2070+2T>A	rs786202801	0.00001
NM_005591.4(MRE11):c.315-2A>G	rs876659145	0.00001
NM_005591.3:c.14_15insALU
NM_005591.4(MRE11):c.1018-1G>A	rs1555012083
NM_005591.4(MRE11):c.1098+2T>C	rs876659343
NM_005591.4(MRE11):c.1225+1G>A	rs876658665
NM_005591.4(MRE11):c.1225_1225+1delinsCA	rs2134999194
NM_005591.4(MRE11):c.1226-2A>C	rs1555009945
NM_005591.4(MRE11):c.1327-1G>C
NM_005591.4(MRE11):c.1327-2A>G	rs878854776
NM_005591.4(MRE11):c.154-1G>A	rs1555017290
NM_005591.4(MRE11):c.1564-1G>A
NM_005591.4(MRE11):c.1783+1G>A
NM_005591.4(MRE11):c.1784-2A>G	rs201572020
NM_005591.4(MRE11):c.1868-2A>C	rs1555002450
NM_005591.4(MRE11):c.1926+2T>C	rs1555002390
NM_005591.4(MRE11):c.1926+2_1926+5del	rs1555002387
NM_005591.4(MRE11):c.1927-1G>T	rs1295485913
NM_005591.4(MRE11):c.1927-2A>G	rs587781822
NM_005591.4(MRE11):c.1994+1G>C
NM_005591.4(MRE11):c.1995-2A>G	rs1591634006
NM_005591.4(MRE11):c.21-1G>A
NM_005591.4(MRE11):c.21-6_26del	rs587780138
NM_005591.4(MRE11):c.314+2T>C	rs1591718826
NM_005591.4(MRE11):c.3G>T (p.Met1Ile)	rs1555018818
NM_005591.4(MRE11):c.402+2_402+3delinsGGG	rs1555015413
NM_005591.4(MRE11):c.402G>C (p.Gly134=)	rs587782669
NM_005591.4(MRE11):c.403-2A>G
NM_005591.4(MRE11):c.403-2A>T	rs2135086294
NM_005591.4(MRE11):c.47T>G (p.Leu16Ter)
NM_005591.4(MRE11):c.56del (p.Thr19fs)
NM_005591.4(MRE11):c.660-1G>A	rs876658917
NM_005591.4(MRE11):c.845+2T>A	rs587781381
NM_005591.4(MRE11):c.846-1G>T
NM_005591.4(MRE11):c.846-2A>C	rs1591693112

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