ClinVar Miner

List of variants reported as benign for Holoprosencephaly 9 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.801G>A (p.Ser267=) rs2592595 0.82634
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn) rs12711538 0.66550
NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=) rs10167980 0.61468
NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser) rs3738880 0.61025
NM_001374353.1(GLI2):c.*816G>C rs2278741 0.60767
NM_001374353.1(GLI2):c.3831G>A (p.Thr1277=) rs115052795 0.02871
NM_001374353.1(GLI2):c.2997C>T (p.Asp999=) rs140479803 0.02616
NM_001374353.1(GLI2):c.1893C>T (p.Thr631=) rs13008360 0.02306
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238 0.01651
NM_001374353.1(GLI2):c.963C>G (p.Pro321=) rs149894186 0.01440
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=) rs61732852 0.01154
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724 0.00970
NM_001374353.1(GLI2):c.-7G>A rs112131051 0.00890
NM_001374353.1(GLI2):c.1818C>A (p.Gly606=) rs61732850 0.00832
NM_001374353.1(GLI2):c.*1826T>G rs139459477 0.00827
NM_001374353.1(GLI2):c.*1785A>G rs150539352 0.00724
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319 0.00522
NM_001374353.1(GLI2):c.720C>T (p.Asp240=) rs142793481 0.00483
NM_001374353.1(GLI2):c.*1375A>C rs200730065 0.00356
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=) rs146059306 0.00325
NM_001374353.1(GLI2):c.*42C>T rs185228238 0.00257
NM_001374353.1(GLI2):c.1751A>G (p.Asn584Ser) rs61732851 0.00254
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu) rs147580961 0.00222
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687 0.00177
NM_001374353.1(GLI2):c.1243G>A (p.Val415Met) rs142296407 0.00124
NM_001374353.1(GLI2):c.4446T>C (p.Thr1482=) rs151090814 0.00101
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) rs147044066 0.00088
NM_001374353.1(GLI2):c.291C>T (p.Asp97=) rs199671413 0.00086
NM_001374353.1(GLI2):c.*1895G>A rs76865566 0.00083
NM_001374353.1(GLI2):c.1080G>A (p.Ser360=) rs149110951 0.00073
NM_001374353.1(GLI2):c.*419C>T rs370777016 0.00011
NM_001374353.1(GLI2):c.1260C>T (p.Thr420=) rs200497671 0.00010
NM_001374353.1(GLI2):c.4571C>A (p.Ser1524Tyr) rs199887024 0.00004
NM_001374353.1(GLI2):c.-1G>C rs369138377 0.00003
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser) rs572826436 0.00001
NM_001374353.1(GLI2):c.3409G>A (p.Val1137Ile) rs200999705 0.00001
NM_001374353.1(GLI2):c.4156A>G (p.Met1386Val) rs577126364 0.00001
NM_001374353.1(GLI2):c.595G>A (p.Gly199Ser) rs542892514 0.00001
NM_001374353.1(GLI2):c.2136C>A (p.Phe712Leu) rs151179617
NM_001374353.1(GLI2):c.4509T>G (p.Asp1503Glu) rs148902971

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