List of variants studied for anemia by SIB Swiss Institute of Bioinformatics

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		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln)	rs2228500	0.16379
NM_001321759.2(CDIN1):c.707A>G (p.Tyr236Cys)	rs768744226	0.00002
NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser)	rs587777101	0.00001
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys)	rs587777101
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln)	rs587777100
NM_001321759.2(CDIN1):c.59C>G (p.Pro20Arg)	rs1595696464
NM_001321759.2(CDIN1):c.689A>C (p.His230Pro)	rs1595503440
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn)	rs1556323334
NM_148923.4(CYB5A):c.131A>T (p.His44Leu)	rs1555688659
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter)	rs1555691399

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