ClinVar Miner

List of variants in gene MAN1B1 reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_016219.5(MAN1B1):c.1485A>G (p.Arg495=) rs113472164 0.00639
NM_016219.5(MAN1B1):c.459G>A (p.Ser153=) rs140105878 0.00457
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg) rs75639549 0.00445
NM_016219.5(MAN1B1):c.1713C>T (p.Ile571=) rs12000048 0.00411
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152 0.00371
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln) rs149339002 0.00309
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=) rs138435910 0.00230
NM_016219.5(MAN1B1):c.1386C>T (p.Ala462=) rs141112920 0.00215
NM_016219.5(MAN1B1):c.1710G>A (p.Glu570=) rs144271949 0.00210
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=) rs145704211 0.00151
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_016219.5(MAN1B1):c.272C>T (p.Ala91Val) rs138411911 0.00135
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu) rs147529965 0.00135
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_016219.5(MAN1B1):c.1095C>T (p.Ala365=) rs144304981 0.00083
NM_016219.5(MAN1B1):c.1744C>T (p.Arg582Cys) rs142406504 0.00046
NM_016219.5(MAN1B1):c.1287C>T (p.His429=) rs145524720 0.00038
NM_016219.5(MAN1B1):c.717A>G (p.Thr239=) rs112434939 0.00026
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=) rs150942110 0.00016
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=) rs377461918 0.00013
NM_016219.5(MAN1B1):c.1674G>A (p.Gln558=) rs374793603 0.00012
NM_016219.5(MAN1B1):c.768C>T (p.Val256=) rs145906530 0.00012
NM_016219.5(MAN1B1):c.1011G>C (p.Gly337=) rs142836717 0.00009
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=) rs372125925 0.00004
NM_016219.5(MAN1B1):c.2079G>A (p.Leu693=) rs558619741 0.00004
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=) rs199738190 0.00004
NM_016219.5(MAN1B1):c.1288G>A (p.Gly430Ser) rs199553033 0.00003
NM_016219.5(MAN1B1):c.1556G>T (p.Ser519Ile) rs763074368 0.00003
NM_016219.5(MAN1B1):c.708G>A (p.Pro236=) rs536127999 0.00003
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=) rs777042053 0.00003
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=) rs564784943 0.00002
NM_016219.5(MAN1B1):c.756C>T (p.Gly252=) rs752442068 0.00002
NM_016219.5(MAN1B1):c.1992G>A (p.Thr664=) rs747239978 0.00001
NM_016219.5(MAN1B1):c.1017C>A (p.Leu339=)
NM_016219.5(MAN1B1):c.1044C>T (p.Asp348=)
NM_016219.5(MAN1B1):c.1054C>T (p.Leu352=)
NM_016219.5(MAN1B1):c.1327A>G (p.Ile443Val)
NM_016219.5(MAN1B1):c.1371G>A (p.Thr457=)
NM_016219.5(MAN1B1):c.1596G>A (p.Thr532=)
NM_016219.5(MAN1B1):c.1603C>T (p.Leu535=)
NM_016219.5(MAN1B1):c.1707C>G (p.Pro569=)
NM_016219.5(MAN1B1):c.1905G>A (p.Ser635=) rs114484315
NM_016219.5(MAN1B1):c.1953G>A (p.Glu651=) rs1244821111
NM_016219.5(MAN1B1):c.458C>T (p.Ser153Leu)

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