ClinVar Miner

List of variants in gene ITSN1 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_003024.3(ITSN1):c.623+42A>G rs2834255 0.84472
NM_003024.3(ITSN1):c.3891-106A>G rs9984732 0.77184
NM_003024.3(ITSN1):c.3662-87A>G rs9305535 0.61740
NM_003024.3(ITSN1):c.4174-47G>A rs2298681 0.57855
NM_003024.3(ITSN1):c.5043T>C (p.Arg1681=) rs2073370 0.55476
NM_003024.3(ITSN1):c.2934-158dup rs3216078 0.47388
NM_003024.3(ITSN1):c.724+33C>A rs2154434 0.47342
NM_003024.3(ITSN1):c.3469+152A>G rs2248321 0.37596
NM_003024.3(ITSN1):c.4174-198C>T rs2298679 0.32590
NM_003024.3(ITSN1):c.4075-132A>T rs2070394 0.31115
NM_003024.3(ITSN1):c.624-242A>G rs2244966 0.30505
NM_003024.3(ITSN1):c.3784-69G>C rs2073366 0.21534
NM_003024.3(ITSN1):c.3784-210G>A rs73201781 0.21519
NM_003024.3(ITSN1):c.4676+25T>A rs13052780 0.19245
NM_003024.3(ITSN1):c.4342-94T>G rs8128590 0.19029
NM_003024.3(ITSN1):c.526+98A>G rs2276227 0.16793
NM_003024.3(ITSN1):c.926+10A>G rs2248815 0.15991
NM_003024.3(ITSN1):c.1952+173A>G rs2073369 0.14617
NM_003024.3(ITSN1):c.1952+31G>T rs2073368 0.13011
NM_003024.3(ITSN1):c.3249C>T (p.Ala1083=) rs1108000 0.12890
NM_003024.3(ITSN1):c.5018-37_5018-30del rs67686176 0.10552
NM_003024.3(ITSN1):c.2933+26T>C rs2236613 0.10482
NM_003024.3(ITSN1):c.3890+192A>G rs75072122 0.07686
NM_003024.3(ITSN1):c.3784-3T>C rs2073367 0.07664
NM_003024.3(ITSN1):c.4100A>G (p.Lys1367Arg) rs56279221 0.06431
NM_003024.3(ITSN1):c.4174-189G>C rs2298680 0.06290
NM_003024.3(ITSN1):c.788+131T>C rs73199862 0.05595
NM_003024.3(ITSN1):c.2934-18C>G rs114855389 0.03906
NM_003024.3(ITSN1):c.4554+189T>G rs16990987 0.02468
NM_003024.3(ITSN1):c.5106C>T (p.His1702=) rs2834286 0.02397
NM_003024.3(ITSN1):c.3352-212A>G rs115514648 0.01695
NM_003024.3(ITSN1):c.1566C>T (p.Ala522=) rs112319566 0.00803
NM_003024.3(ITSN1):c.450T>C (p.Val150=) rs7276194 0.00787
NM_003024.3(ITSN1):c.3469+7A>C rs28678430 0.00705
NM_003024.3(ITSN1):c.789-5A>G rs147654153 0.00608
NM_003024.3(ITSN1):c.927-10G>A rs115178190 0.00537
NM_003024.3(ITSN1):c.1952+43G>T rs115546104 0.00407
NM_003024.3(ITSN1):c.-32-237G>C rs114081097
NM_003024.3(ITSN1):c.122-29del rs373376953
NM_003024.3(ITSN1):c.122-29dup rs373376953
NM_003024.3(ITSN1):c.2568-158TTTA[5] rs149351561
NM_003024.3(ITSN1):c.2568-76dup rs764000502
NM_003024.3(ITSN1):c.3890+168G>A rs1888449
NM_003024.3(ITSN1):c.4044T>C (p.Asp1348=) rs9976801
NM_003024.3(ITSN1):c.4173+99C>T rs73900386
NM_003024.3(ITSN1):c.4341+48C>G rs933130
NM_003024.3(ITSN1):c.4676+244_4676+246dup rs34448559
NM_003024.3(ITSN1):c.4676+245_4676+246dup rs34448559
NM_003024.3(ITSN1):c.4676+246dup rs34448559
NM_003024.3(ITSN1):c.5018-198del rs11319527
NM_003024.3(ITSN1):c.725-140dup rs11444980

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