ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Genomic Research Center, Shahid Beheshti University of Medical Sciences and "benign" from any submitter

Minimum review status of the submission from Genomic Research Center, Shahid Beheshti University of Medical Sciences: Collection method of the submission from Genomic Research Center, Shahid Beheshti University of Medical Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 38
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HGVS dbSNP gnomAD frequency
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632 0.90287
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_005013.2(NUCB2):c.-406C>G rs214088 0.62041
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782 0.00771
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613 0.00606
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759 0.00555
NM_001082.5(CYP4F2):c.648-7C>A rs3093221 0.00504
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_016335.6(PRODH):c.865T>A (p.Leu289Met) rs137852934 0.00464
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_001386125.1(OBSCN):c.35T>A (p.Phe12Tyr) rs191837710 0.00322
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_000276.4(OCRL):c.40-5C>T rs201211377 0.00088
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_001378183.1(PIEZO2):c.5080G>A (p.Asp1694Asn) rs114649884 0.00044
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398 0.00042
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) rs142016804 0.00032
NM_012213.3(MLYCD):c.1328G>C (p.Gly443Ala) rs200278015 0.00025
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604 0.00017
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys) rs560471003 0.00004
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013 0.00004
NM_001609.4(ACADSB):c.1128+3A>T rs760423996 0.00003
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=) rs782546330 0.00001
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055 0.00001
NM_000400.4(ERCC2):c.1195C>T (p.Leu399Phe) rs551211003 0.00001
NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys) rs763256222 0.00001
NM_003482.4(KMT2D):c.9002A>G (p.Lys3001Arg) rs371231725 0.00001
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del) rs56717389
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001111125.3(IQSEC2):c.3054G>A (p.Thr1018=) rs782748833
NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly) rs529580146
NM_022336.4(EDAR):c.1024+16del rs3833574

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