List of variants in gene MTRR reported as pathogenic for spina bifida

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.1769+1G>A	rs778738842	0.00009
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)	rs147277149	0.00007
NM_002454.3(MTRR):c.903+469T>C	rs893229476	0.00007
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter)	rs375908206	0.00002
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)	rs137853062	0.00001
NM_002454.3(MTRR):c.1554_1557+3del	rs754619743	0.00001
NM_002454.3(MTRR):c.230del (p.Gln77fs)	rs1408257020	0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)	rs754990692	0.00001
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter)	rs1353165398	0.00001
NM_002454.3(MTRR):c.1677-1G>A
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs)	rs768980918
NM_002454.3(MTRR):c.1953-6_1953-2del

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