ClinVar Miner

List of variants in gene SPART reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) rs146398746 0.00180
NM_015087.5(SPART):c.1155T>G (p.Arg385=) rs140222511 0.00165
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) rs148833652 0.00123
NM_015087.5(SPART):c.75A>G (p.Leu25=) rs148399669 0.00113
NM_015087.5(SPART):c.1939G>A (p.Val647Met) rs146683642 0.00086
NM_015087.5(SPART):c.363C>T (p.Asp121=) rs149393698 0.00072
NM_015087.5(SPART):c.1414G>T (p.Ala472Ser) rs142482393 0.00019
NM_015087.5(SPART):c.360A>G (p.Lys120=) rs149730980 0.00014
NM_015087.5(SPART):c.141G>T (p.Lys47Asn) rs1566133181 0.00001
NM_015087.5(SPART):c.1213T>G (p.Cys405Gly)
NM_015087.5(SPART):c.1309G>T (p.Gly437Cys) rs139819321
NM_015087.5(SPART):c.1654G>C (p.Val552Leu) rs779828161
NM_015087.5(SPART):c.469G>A (p.Ala157Thr)

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