List of variants in gene GPAA1 reported as likely pathogenic for not provided

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)	rs782339984	0.00015
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys)	rs200581623	0.00004
NM_003801.4(GPAA1):c.1165-1C>T	rs187027021	0.00003
NM_003801.4(GPAA1):c.814-1G>T	rs782689725	0.00001
NM_003801.4(GPAA1):c.1010+1G>C
NM_003801.4(GPAA1):c.1011-2_1011-1del
NM_003801.4(GPAA1):c.1258C>T (p.Gln420Ter)	rs2129946524
NM_003801.4(GPAA1):c.1260+1G>A
NM_003801.4(GPAA1):c.366+1G>A
NM_003801.4(GPAA1):c.461_462del (p.Ser154fs)
NM_003801.4(GPAA1):c.515-2A>G	rs1564304413
NM_003801.4(GPAA1):c.616+1G>A
NM_003801.4(GPAA1):c.616+1G>C	rs1554763955
NM_003801.4(GPAA1):c.616+1G>T	rs1554763955
NM_003801.4(GPAA1):c.813+1G>A
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro)	rs1010907740
NM_003801.4(GPAA1):c.947C>T (p.Ala316Val)	rs781822297

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