ClinVar Miner

List of variants reported as likely benign for Congenital defect of folate absorption

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_015077.4(SARM1):c.1924-565G>C rs117397871 0.01065
NM_015077.4(SARM1):c.*1247C>G rs7225850 0.00854
NM_015077.4(SARM1):c.*250T>C rs147971222 0.00348
NM_015077.4(SARM1):c.*1722C>T rs114008979 0.00295
NM_080669.6(SLC46A1):c.756C>G (p.Val252=) rs185900287 0.00274
NM_015077.4(SARM1):c.*518G>A rs569526091 0.00243
NM_080669.6(SLC46A1):c.642G>A (p.Leu214=) rs145398587 0.00145
NM_080669.6(SLC46A1):c.294C>A (p.Leu98=) rs371270310 0.00110
NM_015077.4(SARM1):c.*2038C>T rs146041886 0.00101
NM_015077.4(SARM1):c.*1978G>T rs141940033 0.00011
NM_015077.4(SARM1):c.*3310C>A rs41297121 0.00006
NM_015077.4(SARM1):c.1924-284C>T rs569679076
NM_080669.6(SLC46A1):c.906A>G (p.Lys302=) rs572650603

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