ClinVar Miner

List of variants in gene MLPH reported by Genetic Services Laboratory, University of Chicago

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_024101.7(MLPH):c.1508C>T (p.Ser503Leu) rs146485666 0.00685
NM_024101.7(MLPH):c.1710G>A (p.Val570=) rs41270745 0.00198
NM_024101.7(MLPH):c.1416G>A (p.Thr472=) rs139181999 0.00093
NM_024101.7(MLPH):c.1538C>T (p.Pro513Leu) rs369604551 0.00006
NM_024101.7(MLPH):c.1625C>T (p.Ala542Val) rs755733100 0.00004
NM_024101.7(MLPH):c.1558G>T (p.Ala520Ser) rs764964175 0.00003
NM_024101.7(MLPH):c.1485C>G (p.Ala495=) rs113254879
NM_024101.7(MLPH):c.1539G>T (p.Pro513=) rs151070956
NM_024101.7(MLPH):c.1745C>T (p.Ala582Val) rs112711398
NM_024101.7(MLPH):c.880+10del rs758805619

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