ClinVar Miner

List of variants in gene combination ANK2, LOC126807136 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.5509G>A (p.Ala1837Thr) rs199527708 0.00024
NM_001148.6(ANK2):c.5651C>T (p.Ser1884Leu) rs150737736 0.00015
NM_001148.6(ANK2):c.6143A>G (p.Gln2048Arg) rs201628725 0.00006
NM_001148.6(ANK2):c.6170C>T (p.Pro2057Leu) rs146531225 0.00005
NM_001148.6(ANK2):c.5249C>T (p.Thr1750Ile) rs1468122749 0.00002
NM_001148.6(ANK2):c.5515A>C (p.Thr1839Pro) rs763795429 0.00002
NM_001148.6(ANK2):c.5715G>A (p.Ser1905=) rs143404578 0.00002
NM_001148.6(ANK2):c.5737C>T (p.Arg1913Cys) rs147547363 0.00002
NM_001148.6(ANK2):c.6100G>A (p.Gly2034Arg) rs764677814 0.00002
NM_001148.6(ANK2):c.5507C>G (p.Ser1836Cys) rs2095587012 0.00001
NM_001148.6(ANK2):c.5508C>T (p.Ser1836=) rs766217545 0.00001
NM_001148.6(ANK2):c.5599T>G (p.Ser1867Ala) rs771441107 0.00001
NM_001148.6(ANK2):c.5618G>A (p.Ser1873Asn) rs1227210695 0.00001
NM_001148.6(ANK2):c.5860G>T (p.Ala1954Ser) rs371556220 0.00001
NM_001148.6(ANK2):c.5351G>C (p.Arg1784Pro) rs777085522
NM_001148.6(ANK2):c.5431C>T (p.Pro1811Ser) rs200645469
NM_001148.6(ANK2):c.5815G>C (p.Val1939Leu) rs759195568
NM_001148.6(ANK2):c.6078A>T (p.Lys2026Asn) rs759970012

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