ClinVar Miner

List of variants reported as benign for 3M syndrome 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_015311.3(OBSL1):c.4836A>G (p.Thr1612=) rs10932813 0.98738
NM_015311.3(OBSL1):c.4395T>C (p.Asp1465=) rs10932816 0.96819
NM_015311.3(OBSL1):c.4733A>G (p.Gln1578Arg) rs10932814 0.96074
NM_015311.3(OBSL1):c.2168G>A (p.Arg723Lys) rs1039898 0.81697
NM_015311.3(OBSL1):c.921T>C (p.Leu307=) rs10180675 0.80936
NM_015311.3(OBSL1):c.4095G>C (p.Glu1365Asp) rs1983210 0.69535
NM_015311.3(OBSL1):c.3561T>C (p.Pro1187=) rs2278201 0.47513
NM_015311.3(OBSL1):c.5309-4C>G rs34490902 0.45189
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln) rs59332477 0.43789
NM_015311.3(OBSL1):c.580C>T (p.Leu194=) rs1061399 0.35689
NM_015311.3(OBSL1):c.4566C>T (p.Cys1522=) rs3087971 0.26702
NM_015311.3(OBSL1):c.2682C>T (p.Asp894=) rs3183099 0.20573
NM_015311.3(OBSL1):c.2055C>A (p.Ala685=) rs1043537 0.18910
NM_015311.3(OBSL1):c.1818C>T (p.Phe606=) rs61732787 0.18850
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) rs35009641 0.03933
NM_015311.3(OBSL1):c.-42T>C rs879691022 0.01980
NM_015311.3(OBSL1):c.4117G>A (p.Glu1373Lys) rs140214067 0.01955
NM_015311.3(OBSL1):c.4032C>G (p.Pro1344=) rs112751766 0.01798
NM_015311.3(OBSL1):c.1884C>T (p.Tyr628=) rs115194510 0.01551
NM_015311.3(OBSL1):c.3752C>T (p.Pro1251Leu) rs145485683 0.01074
NM_015311.3(OBSL1):c.1512C>T (p.Thr504=) rs138262993 0.00857
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu) rs181520135 0.00757
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln) rs115283876 0.00740
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) rs150691758 0.00634
NM_015311.3(OBSL1):c.4363T>C (p.Leu1455=) rs78420199 0.00600
NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile) rs147543583 0.00466
NM_015311.3(OBSL1):c.5280C>T (p.Pro1760=) rs373081802 0.00398
NM_015311.3(OBSL1):c.3283G>A (p.Ala1095Thr) rs186692362 0.00388
NM_015311.3(OBSL1):c.3399G>A (p.Gly1133=) rs115915650 0.00387
NM_015311.3(OBSL1):c.1245G>A (p.Arg415=) rs61732788 0.00371
NM_015311.3(OBSL1):c.4067-12C>T rs144059707 0.00336
NM_015311.3(OBSL1):c.3390T>C (p.Gly1130=) rs200777549 0.00327
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) rs374656370 0.00182
NM_015311.3(OBSL1):c.96G>A (p.Lys32=) rs200451309 0.00108
NM_015311.3(OBSL1):c.2981G>A (p.Arg994His) rs139713392 0.00054
NM_015311.3(OBSL1):c.2577G>T (p.Gly859=) rs141559295 0.00052
NM_015311.3(OBSL1):c.2578C>T (p.Pro860Ser) rs117788171 0.00052
NM_015311.3(OBSL1):c.1599G>A (p.Thr533=) rs149009269 0.00029
NM_015311.3(OBSL1):c.3604G>A (p.Ala1202Thr) rs201887372 0.00027
NM_015311.3(OBSL1):c.600G>A (p.Arg200=) rs373739744 0.00001
NM_015311.3(OBSL1):c.-208G>C rs567328066
NM_015311.3(OBSL1):c.2730C>A (p.Ala910=) rs10804275
NM_015311.3(OBSL1):c.4067-11G>T rs1983211

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