List of variants in gene AMT reported by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)	rs386833680	0.00006
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)	rs386833679	0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His)	rs386833690	0.00003
NM_000481.4(AMT):c.139G>T (p.Gly47Trp)	rs121964982
NM_000481.4(AMT):c.148del (p.Val50fs)	rs386833678
NM_000481.4(AMT):c.259-1G>C	rs386833681
NM_000481.4(AMT):c.434A>T (p.Asn145Ile)	rs386833682
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)	rs386833683
NM_000481.4(AMT):c.471+2T>C	rs386833684
NM_000481.4(AMT):c.535del (p.Leu179fs)	rs386833685
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys)	rs386833689
NM_000481.4(AMT):c.970_972del (p.Met324del)	rs386833691
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs)	rs386833692

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