List of variants studied for MPI-congenital disorder of glycosylation by Fulgent Genetics, Fulgent Genetics

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		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002435.3(MPI):c.1049C>T (p.Thr350Met)	rs116933453	0.00095
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)	rs104894489	0.00021
NM_002435.3(MPI):c.167G>A (p.Arg56Gln)	rs200452019	0.00009
NM_002435.3(MPI):c.-5C>T	rs145533697	0.00008
NM_002435.3(MPI):c.61A>G (p.Met21Val)	rs376746368	0.00006
NM_002435.3(MPI):c.1232C>T (p.Pro411Leu)	rs147817691	0.00004
NM_002435.3(MPI):c.305C>T (p.Ser102Leu)	rs104894494	0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His)	rs28928906	0.00003
NM_002435.3(MPI):c.488-1G>C	rs759579169	0.00001
NM_002435.3(MPI):c.628G>A (p.Val210Met)	rs781158335	0.00001
NM_002435.3(MPI):c.902A>G (p.Lys301Arg)	rs534508637	0.00001
NM_002435.3(MPI):c.*129G>C	rs80226376
NM_002435.3(MPI):c.345+15_345+16delinsAT	rs1064794476

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