ClinVar Miner

List of variants studied for Sitosterolemia 1 by New York Genome Center

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) rs140690030 0.00103
NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr) rs149441561 0.00023
NM_022437.3(ABCG8):c.1549T>C (p.Trp517Arg) rs142165666 0.00011
NM_022437.3(ABCG8):c.1386C>T (p.Asn462=) rs371163697 0.00008
NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe) rs547583131 0.00004
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser) rs548098742 0.00002
NM_022437.3(ABCG8):c.1943T>C (p.Ile648Thr) rs1319856628 0.00001
NM_022437.3(ABCG8):c.647G>A (p.Gly216Asp) rs775262569 0.00001
NM_022437.3(ABCG8):c.1481T>C (p.Phe494Ser)
NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu) rs558635043
NM_022437.3(ABCG8):c.320C>T (p.Ser107Leu)
NM_022437.3(ABCG8):c.818G>A (p.Arg273His)

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