List of variants in gene ANK1, LOC126860369 studied for anemia

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000037.4(ANK1):c.1782C>A (p.Ser594=)	rs61753679	0.02349
NM_000037.4(ANK1):c.1800+3A>T	rs559020131	0.00004
NM_000037.4(ANK1):c.1702-2A>C	rs1554567249
NM_000037.4(ANK1):c.1702-2A>G	rs1554567249
NM_000037.4(ANK1):c.1702-3_1710del	rs1826992833
NM_000037.4(ANK1):c.1709del (p.Leu570fs)
NM_000037.4(ANK1):c.1717del (p.Leu573fs)	rs1826989524
NM_000037.4(ANK1):c.1717dup (p.Leu573fs)
NM_000037.4(ANK1):c.1729G>A (p.Val577Ile)
NM_000037.4(ANK1):c.1771C>G (p.Arg591Gly)	rs754903343
NM_000037.4(ANK1):c.1779_1800+1dup
NM_000037.4(ANK1):c.1781_1794del (p.Ser594fs)	rs2150631832
NM_000037.4(ANK1):c.1784dup (p.His596fs)
NM_000037.4(ANK1):c.1786C>A (p.His596Asn)
NM_000037.4(ANK1):c.1800+1del

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