ClinVar Miner

List of variants in gene AMER1 reported as not provided

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_152424.4(AMER1):c.477T>G (p.Phe159Leu) rs34677493 0.13685
NM_152424.4(AMER1):c.876G>C (p.Lys292Asn) rs138948924 0.01385
NM_152424.4(AMER1):c.832G>T (p.Ala278Ser) rs35718712 0.00369
NM_152424.4(AMER1):c.85G>A (p.Ala29Thr) rs138399473 0.00183
NM_152424.4(AMER1):c.2651C>T (p.Pro884Leu) rs201092215 0.00157
NM_152424.4(AMER1):c.1796A>G (p.Tyr599Cys) rs144896730 0.00043
NM_152424.4(AMER1):c.1873A>G (p.Thr625Ala) rs142654101 0.00039
NM_152424.4(AMER1):c.908G>A (p.Gly303Asp) rs200552684 0.00029
NM_152424.4(AMER1):c.790G>A (p.Ala264Thr) rs150929706 0.00020
NM_152424.4(AMER1):c.1951G>A (p.Val651Ile) rs587778026 0.00017
NM_152424.4(AMER1):c.2157G>A (p.Met719Ile) rs142355260 0.00014
NM_152424.4(AMER1):c.185G>T (p.Gly62Val) rs147040794 0.00011
NM_152424.4(AMER1):c.3127A>G (p.Ser1043Gly) rs373315882 0.00011
NM_152424.4(AMER1):c.1721G>A (p.Arg574Gln) rs587778025 0.00007
NM_152424.4(AMER1):c.3271C>T (p.Arg1091Trp) rs375850061 0.00007
NM_152424.4(AMER1):c.2015G>A (p.Gly672Glu) rs587778027 0.00003
NM_152424.4(AMER1):c.835A>G (p.Ser279Gly) rs587778024 0.00001
NM_152424.4(AMER1):c.1145AAGAAGAGG[1] (p.Glu385_Glu387del) rs587778022
NM_152424.4(AMER1):c.1811A>G (p.Tyr604Cys) rs587778023

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