ClinVar Miner

List of variants reported as likely benign for congenital lactase deficiency

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_002299.4(LCT):c.1650C>G (p.Gly550=) rs35093754 0.05209
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) rs115690016 0.01755
NM_002299.4(LCT):c.*429A>C rs77631953 0.01053
NM_002299.4(LCT):c.1617C>T (p.Thr539=) rs35476200 0.00281
NM_002299.4(LCT):c.4866+12C>T rs191207394 0.00190
NM_002299.4(LCT):c.3597G>A (p.Ala1199=) rs79326512 0.00148
NM_002299.4(LCT):c.*235C>T rs116002539 0.00111
NM_002299.4(LCT):c.*442GT[1] rs140433552
NM_002299.4(LCT):c.5768C>A (p.Pro1923Gln) rs114828879
NM_002299.4(LCT):c.729C>G (p.Val243=) rs3816088

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