List of variants in gene MBOAT7 reported as likely pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter)	rs2076017638
NM_024298.5(MBOAT7):c.1135del (p.Leu379fs)	rs2076013475
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs)	rs886041058
NM_024298.5(MBOAT7):c.1290C>A (p.Tyr430Ter)
NM_024298.5(MBOAT7):c.199C>T (p.Gln67Ter)	rs2076508722
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter)	rs2076453599
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)	rs1264222654
NM_024298.5(MBOAT7):c.757G>A (p.Glu253Lys)	rs868498080
NM_024298.5(MBOAT7):c.811dup (p.Arg271fs)	rs2146989146

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