List of variants in gene MMUT reported as pathogenic by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)	rs121918256	0.00003
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile)	rs547709692	0.00001
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)	rs765373403
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr)	rs753564352
NM_000255.4(MMUT):c.1849CTT[1] (p.Leu618del)	rs398123277
NM_000255.4(MMUT):c.653A>G (p.Gln218Arg)	rs869320653

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