List of variants in gene MMUT reported as likely pathogenic by Counsyl

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: 37

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg)	rs747897332	0.00006
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)	rs121918254	0.00003
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)	rs143023066	0.00003
NM_000255.4(MMUT):c.1084-10A>G	rs777031588	0.00002
NM_000255.4(MMUT):c.1880A>G (p.His627Arg)	rs372486357	0.00002
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)	rs121918248	0.00002
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)	rs965316043	0.00002
NM_000255.4(MMUT):c.1084-2A>G	rs879253839	0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)	rs765284825	0.00001
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys)	rs140600746	0.00001
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu)	rs769348060	0.00001
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)	rs121918249	0.00001
NM_000255.4(MMUT):c.654A>C (p.Gln218His)	rs1446389693	0.00001
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser)	rs1554160246	0.00001
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)	rs796052002	0.00001
NM_000255.4(MMUT):c.1007del (p.Met336fs)	rs1064796328
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)	rs765373403
NM_000255.4(MMUT):c.1083+1G>A	rs1554160198
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs)	rs1476515561
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs)	rs1554159950
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter)	rs768608311
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)	rs879253844
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser)	rs775593146
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter)	rs148285323
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg)	rs121918254
NM_000255.4(MMUT):c.1946del (p.Pro649fs)	rs1554158754
NM_000255.4(MMUT):c.1956+2T>C	rs750619189
NM_000255.4(MMUT):c.1990del (p.Ala664fs)	rs1554158372
NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer)	rs1554158325
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter)	rs776176938
NM_000255.4(MMUT):c.312del (p.Trp105fs)	rs1064793768
NM_000255.4(MMUT):c.385+2T>C	rs1192889987
NM_000255.4(MMUT):c.385+5G>A	rs1460509686
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)	rs121918258
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)	rs1554160638
NM_000255.4(MMUT):c.754-2A>G	rs1405705785
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)	rs780387525

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