List of variants in gene ANK1, LOC124153154 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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000037.4(ANK1):c.597G>A (p.Pro199=)	rs2304873	0.10581
NM_000037.4(ANK1):c.450A>G (p.Val150=)	rs6982971	0.04455
NM_000037.4(ANK1):c.612+18G>C	rs57815524	0.04206
NM_000037.4(ANK1):c.489C>T (p.Leu163=)	rs34173100	0.01106
NM_000037.4(ANK1):c.447G>T (p.Ala149=)	rs140550365	0.00025
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg)	rs201024919	0.00021
NM_000037.4(ANK1):c.528C>T (p.Ala176=)	rs544906793	0.00018
NM_000037.4(ANK1):c.483G>A (p.Ala161=)	rs200639644	0.00009
NM_000037.4(ANK1):c.563C>T (p.Thr188Met)	rs146346710	0.00004
NM_000037.4(ANK1):c.427-2A>G
NM_000037.4(ANK1):c.441_466del (p.Pro147_Leu148insTer)
NM_000037.4(ANK1):c.455T>C (p.Leu152Pro)
NM_000037.4(ANK1):c.500dup (p.Thr168fs)
NM_000037.4(ANK1):c.511_541del (p.Lys171fs)
NM_000037.4(ANK1):c.534del (p.His178fs)	rs1554578304
NM_000037.4(ANK1):c.547_559del (p.Asn183fs)
NM_000037.4(ANK1):c.557del (p.Thr186fs)
NM_000037.4(ANK1):c.612+1G>C

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