List of variants in gene combination ASPA, SPATA22 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)	rs28940279	0.00028
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu)	rs28940574	0.00015
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)	rs766328537	0.00004
NM_000049.4(ASPA):c.237-2A>T	rs780936696	0.00002
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg)	rs761064915	0.00002
NM_000049.4(ASPA):c.503G>A (p.Arg168His)	rs770706390	0.00001
NM_000049.4(ASPA):c.634+1G>T	rs753871454	0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr)	rs774323189	0.00001
NM_000049.4(ASPA):c.244dup (p.Met82fs)	rs756198538
NM_000049.4(ASPA):c.32del (p.Ile11fs)	rs767666474
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr)	rs1446467099
NM_000049.4(ASPA):c.433-2A>G	rs63751297
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg)	rs104894548
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr)	rs786204572
NM_000049.4(ASPA):c.654C>A (p.Cys218Ter)	rs104894549
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter)	rs12948217
NM_000049.4(ASPA):c.697dup (p.Arg233fs)
NM_000049.4(ASPA):c.876_879del (p.Glu293fs)	rs766720790

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