ClinVar Miner

List of variants in gene DIAPH1 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.1462-241T>C rs6879677 0.68024
NM_005219.5(DIAPH1):c.1461+20G>A rs2302103 0.67950
NM_005219.5(DIAPH1):c.1164-308T>G rs2074914 0.20366
NM_005219.5(DIAPH1):c.2581+240A>T rs79212106 0.12007
NM_005219.5(DIAPH1):c.2358+63G>A rs183044866 0.10482
NM_005219.5(DIAPH1):c.1642-156G>A rs45515193 0.08566
NM_005219.5(DIAPH1):c.1642-251T>C rs77605361 0.06293
NM_005219.5(DIAPH1):c.117+14C>T rs2074913 0.05773
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) rs34296458 0.03749
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102 0.02275
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys) rs143763573 0.00356
NM_005219.5(DIAPH1):c.891G>A (p.Pro297=) rs116463365 0.00354
NM_005219.5(DIAPH1):c.144+40T>C rs78541912 0.00275
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129 0.00123
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser) rs186370335 0.00030
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00018
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306 0.00013
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro) rs200220260 0.00001
NC_000005.10:g.141619209dup rs150947625
NM_005219.5(DIAPH1):c.*1765_*1766dup rs539203577
NM_005219.5(DIAPH1):c.*367C>G rs148686869
NM_005219.5(DIAPH1):c.1164-35AT[3] rs143356915
NM_005219.5(DIAPH1):c.118-224del rs368869644
NM_005219.5(DIAPH1):c.118-240dup rs368869644
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.2358+36dup rs575375242
NM_005219.5(DIAPH1):c.2358+57del rs575375242
NM_005219.5(DIAPH1):c.2358+58G>T rs75962497
NM_005219.5(DIAPH1):c.300+280del rs150742201
NM_005219.5(DIAPH1):c.301-114_301-110del rs138815890
NM_005219.5(DIAPH1):c.301-230dup rs3217029
NM_005219.5(DIAPH1):c.3149-25_3149-14dup rs79558427
NM_005219.5(DIAPH1):c.3149-25_3149-24dup rs79558427
NM_005219.5(DIAPH1):c.3149-25dup rs79558427
NM_005219.5(DIAPH1):c.3149-3del rs79558427
NM_005219.5(DIAPH1):c.3274-244_3274-243insAAAAA rs113235750
NM_005219.5(DIAPH1):c.824+283dup rs3214265

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