List of variants in gene combination ASPA, SPATA22 reported by OMIM

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: 12

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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.212G>A (p.Arg71His)	rs104894553	0.00015
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu)	rs28940574	0.00015
NM_000049.4(ASPA):c.746A>T (p.Asp249Val)	rs104894552	0.00006
NM_000049.4(ASPA):c.32del (p.Ile11fs)	rs767666474
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg)	rs104894548
NM_000049.4(ASPA):c.530_634+3del
NM_000049.4(ASPA):c.654C>A (p.Cys218Ter)	rs104894549
NM_000049.4(ASPA):c.692A>G (p.Tyr231Cys)	rs104894550
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter)	rs12948217
NM_000049.4(ASPA):c.71A>G (p.Glu24Gly)	rs104894551
NM_000049.4(ASPA):c.876_879del (p.Glu293fs)	rs766720790

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