List of variants reported as uncertain significance for Mitochondrial neurogastrointestinal encephalomyopathy by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_001953.5(TYMP):c.1295G>A (p.Arg432His)	rs551975117	0.00056
NM_001953.5(TYMP):c.401C>T (p.Ala134Val)	rs199901350	0.00044
NM_001953.5(TYMP):c.858G>A (p.Glu286=)	rs372421189	0.00037
NM_001953.5(TYMP):c.1159+5G>A	rs748559929	0.00030
NM_001953.5(TYMP):c.437G>A (p.Arg146His)	rs188802138	0.00011
NM_001953.5(TYMP):c.647-9C>G	rs549324764	0.00004
NM_001953.5(TYMP):c.1087G>A (p.Gly363Arg)	rs863224253	0.00003
NM_001953.5(TYMP):c.586G>A (p.Gly196Arg)	rs367723039	0.00003
NM_001953.5(TYMP):c.683C>G (p.Ser228Cys)	rs763471000	0.00003
NM_001953.5(TYMP):c.1266G>A (p.Glu422=)	rs932099850	0.00002
NM_001953.5(TYMP):c.594A>G (p.Leu198=)	rs753241194	0.00002
NM_001953.5(TYMP):c.1030G>C (p.Glu344Gln)	rs1085307802	0.00001
NM_001953.5(TYMP):c.1209G>A (p.Glu403=)	rs752674133	0.00001
NM_001953.5(TYMP):c.1404C>T (p.Ala468=)	rs1159355069	0.00001
NM_001953.5(TYMP):c.281C>T (p.Ala94Val)	rs863224249	0.00001
NM_001953.5(TYMP):c.762G>A (p.Thr254=)	rs373478014	0.00001
NM_001953.5(TYMP):c.1217C>A (p.Ala406Asp)	rs2069353068
NM_001953.5(TYMP):c.1219G>C (p.Gly407Arg)	rs863224254
NM_001953.5(TYMP):c.1225A>G (p.Ser409Gly)	rs2069352300
NM_001953.5(TYMP):c.1273G>A (p.Val425Ile)	rs2069348232
NM_001953.5(TYMP):c.131G>C (p.Arg44Pro)	rs28931613
NM_001953.5(TYMP):c.1321C>T (p.His441Tyr)	rs781153870
NM_001953.5(TYMP):c.135C>T (p.Asp45=)	rs1035604323
NM_001953.5(TYMP):c.1439C>G (p.Pro480Arg)	rs863224256
NM_001953.5(TYMP):c.402G>C (p.Ala134=)	rs747718279
NM_001953.5(TYMP):c.418-7C>T	rs2069479747
NM_001953.5(TYMP):c.647-6C>G	rs1323542953

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