List of variants in gene NNT reported as pathogenic by OMIM

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_182977.3(NNT):c.3027T>G (p.Asn1009Lys)	rs370273690	0.00001
NM_182977.3(NNT):c.385C>T (p.Arg129Ter)	rs886039789	0.00001
NM_012343.3(NNT):c.(-54+1_-53-1)_(381+1_382-1)del
NM_182977.3(NNT):c.1107_1110del (p.Thr369_His370insTer)	rs786205345
NM_182977.3(NNT):c.1163A>C (p.Tyr388Ser)	rs886039787
NM_182977.3(NNT):c.1598C>T (p.Ala533Val)	rs387907232
NM_182977.3(NNT):c.211C>T (p.Arg71Ter)	rs886039790
NM_182977.3(NNT):c.2930T>C (p.Leu977Pro)	rs387907233
NM_182977.3(NNT):c.3022G>C (p.Ala1008Pro)	rs387907234
NM_182977.3(NNT):c.598G>A (p.Gly200Ser)	rs886039788
NM_182977.3(NNT):c.600-1del	rs786205344
NM_182977.3(NNT):c.644T>C (p.Phe215Ser)	rs886039786

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