ClinVar Miner

List of variants in gene POMT2 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) rs141339355 0.00083
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 0.00051
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00026
NM_013382.7(POMT2):c.1691C>T (p.Thr564Met) rs142445941 0.00023
NM_013382.7(POMT2):c.1363C>T (p.Arg455Trp) rs398124261 0.00010
NM_013382.7(POMT2):c.1141T>C (p.Tyr381His) rs369489033 0.00008
NM_013382.7(POMT2):c.1485-3C>T rs754892193 0.00006
NM_013382.7(POMT2):c.1654-8T>G rs780532724 0.00002
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 0.00002
NM_013382.7(POMT2):c.1843A>G (p.Ile615Val) rs762148813 0.00001
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp) rs749335757 0.00001
NM_013382.7(POMT2):c.275T>C (p.Met92Thr) rs775489616 0.00001
NM_013382.7(POMT2):c.1006+10T>C
NM_013382.7(POMT2):c.124C>G (p.Pro42Ala) rs1350511523
NM_013382.7(POMT2):c.1726-8T>C
NM_013382.7(POMT2):c.620T>C (p.Met207Thr) rs1326409250

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