ClinVar Miner

List of variants in gene MLPH reported as likely benign for not provided

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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_024101.7(MLPH):c.811G>A (p.Gly271Ser) rs140017366 0.00232
NM_024101.7(MLPH):c.1710G>A (p.Val570=) rs41270745 0.00198
NM_024101.7(MLPH):c.1171G>A (p.Glu391Lys) rs144852340 0.00151
NM_024101.7(MLPH):c.1172A>T (p.Glu391Val) rs61736277 0.00151
NM_024101.7(MLPH):c.1240G>C (p.Glu414Gln) rs61737688 0.00151
NM_024101.7(MLPH):c.1416G>A (p.Thr472=) rs139181999 0.00093
NM_024101.7(MLPH):c.1020+5C>T rs375752977 0.00077
NM_024101.7(MLPH):c.487G>A (p.Asp163Asn) rs3751108 0.00044
NM_024101.7(MLPH):c.183G>A (p.Glu61=) rs201095796 0.00025
NM_024101.7(MLPH):c.345C>T (p.Ile115=) rs368834843 0.00009
NM_024101.7(MLPH):c.1287G>A (p.Pro429=) rs774027952 0.00001
NM_024101.7(MLPH):c.810C>T (p.His270=) rs747826191 0.00001
NM_024101.7(MLPH):c.1023C>T (p.Ile341=)
NM_024101.7(MLPH):c.110+11C>G
NM_024101.7(MLPH):c.110+11C>T rs201754288
NM_024101.7(MLPH):c.1104+18G>A
NM_024101.7(MLPH):c.1161G>A (p.Arg387=)
NM_024101.7(MLPH):c.1221_1222delinsGT (p.Ala408Ser) rs386656756
NM_024101.7(MLPH):c.1281G>A (p.Ala427=)
NM_024101.7(MLPH):c.1290+7C>T
NM_024101.7(MLPH):c.1299G>A (p.Thr433=)
NM_024101.7(MLPH):c.1447-12del
NM_024101.7(MLPH):c.1447-5C>G
NM_024101.7(MLPH):c.1455C>T (p.Asp485=)
NM_024101.7(MLPH):c.1458T>C (p.Ile486=)
NM_024101.7(MLPH):c.1485C>T (p.Ala495=)
NM_024101.7(MLPH):c.1497G>A (p.Thr499=)
NM_024101.7(MLPH):c.1509G>A (p.Ser503=)
NM_024101.7(MLPH):c.1521G>C (p.Arg507=)
NM_024101.7(MLPH):c.1539+12G>A
NM_024101.7(MLPH):c.1539+12_1539+13insA
NM_024101.7(MLPH):c.1539+12del rs539913151
NM_024101.7(MLPH):c.1539+13_1539+62del
NM_024101.7(MLPH):c.1539+26_1539+41del
NM_024101.7(MLPH):c.1539+26_1539+59del rs763862815
NM_024101.7(MLPH):c.1539+7G>T
NM_024101.7(MLPH):c.1609G>A (p.Glu537Lys)
NM_024101.7(MLPH):c.1618-20A>C
NM_024101.7(MLPH):c.1745C>T (p.Ala582Val) rs112711398
NM_024101.7(MLPH):c.228T>C (p.Asn76=)
NM_024101.7(MLPH):c.246G>A (p.Leu82=)
NM_024101.7(MLPH):c.336C>T (p.Val112=)
NM_024101.7(MLPH):c.417G>A (p.Arg139=)
NM_024101.7(MLPH):c.445+15G>A
NM_024101.7(MLPH):c.555+13C>T
NM_024101.7(MLPH):c.591C>T (p.Phe197=)
NM_024101.7(MLPH):c.669C>T (p.Ser223=)
NM_024101.7(MLPH):c.675+15G>A
NM_024101.7(MLPH):c.786G>A (p.Pro262=)
NM_024101.7(MLPH):c.880+10del rs758805619
NM_024101.7(MLPH):c.885G>A (p.Ser295=)
NM_024101.7(MLPH):c.966C>T (p.His322=)
NM_024101.7(MLPH):c.992G>A (p.Arg331Gln) rs113169138

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