ClinVar Miner

List of variants in gene INTS1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_001080453.3(INTS1):c.6255+6C>T rs117597074 0.00449
NM_001080453.3(INTS1):c.5484C>T (p.Ala1828=) rs193130310 0.00423
NM_001080453.3(INTS1):c.154G>A (p.Gly52Ser) rs202230447 0.00267
NM_001080453.3(INTS1):c.1473C>T (p.Tyr491=) rs182630317 0.00266
NM_001080453.3(INTS1):c.4497G>A (p.Gly1499=) rs10260307 0.00257
NM_001080453.3(INTS1):c.4425G>T (p.Gly1475=) rs201144021 0.00256
NM_001080453.3(INTS1):c.3950A>G (p.Asp1317Gly) rs187845066 0.00245
NM_001080453.3(INTS1):c.1200C>T (p.Ser400=) rs201018657 0.00240
NM_001080453.3(INTS1):c.4173C>T (p.Val1391=) rs376127000 0.00236
NM_001080453.3(INTS1):c.6058G>A (p.Glu2020Lys) rs201873966 0.00209
NM_001080453.3(INTS1):c.4254C>T (p.Gly1418=) rs201592498 0.00187
NM_001080453.3(INTS1):c.4806C>T (p.Asp1602=) rs199641509 0.00169
NM_001080453.3(INTS1):c.3326C>T (p.Pro1109Leu) rs200983063 0.00164
NM_001080453.3(INTS1):c.765G>A (p.Thr255=) rs201273911 0.00164
NM_001080453.3(INTS1):c.1716G>A (p.Leu572=) rs143689649 0.00150
NM_001080453.3(INTS1):c.4291C>T (p.Leu1431=) rs370186628 0.00137
NM_001080453.3(INTS1):c.350-7C>T rs146006547 0.00124
NM_001080453.3(INTS1):c.4575C>T (p.Ile1525=) rs180881535 0.00115
NM_001080453.3(INTS1):c.795C>T (p.Ser265=) rs181410589 0.00112
NM_001080453.3(INTS1):c.6282G>A (p.Ser2094=) rs149670463 0.00106
NM_001080453.3(INTS1):c.1524C>T (p.His508=) rs200632106 0.00086
NM_001080453.3(INTS1):c.3315G>A (p.Ser1105=) rs191760411 0.00075
NM_001080453.3(INTS1):c.6262C>T (p.Leu2088=) rs376165628 0.00068
NM_001080453.3(INTS1):c.2400G>A (p.Gln800=) rs202228703 0.00040
NM_001080453.3(INTS1):c.3765G>C (p.Val1255=) rs201348159 0.00038
NM_001080453.3(INTS1):c.230G>A (p.Arg77His) rs138307850 0.00031
NM_001080453.3(INTS1):c.1956G>A (p.Thr652=) rs375550266 0.00028
NM_001080453.3(INTS1):c.6139A>G (p.Met2047Val) rs199728337 0.00026
NM_001080453.3(INTS1):c.816G>A (p.Ala272=) rs374291920 0.00025
NM_001080453.3(INTS1):c.1824C>T (p.Tyr608=) rs180741809 0.00024
NM_001080453.3(INTS1):c.906G>A (p.Ala302=) rs368209220 0.00023
NM_001080453.3(INTS1):c.5259C>T (p.Ala1753=) rs375794790 0.00019
NM_001080453.3(INTS1):c.2022G>A (p.Glu674=) rs371844185 0.00013
NM_001080453.3(INTS1):c.4134C>T (p.Leu1378=) rs369731152 0.00011
NM_001080453.3(INTS1):c.3585G>A (p.Pro1195=) rs371444064 0.00010
NM_001080453.3(INTS1):c.153C>T (p.Ser51=) rs371226645 0.00009
NM_001080453.3(INTS1):c.2985G>A (p.Ser995=) rs190236314 0.00009
NM_001080453.3(INTS1):c.4280G>A (p.Arg1427His) rs373326766 0.00009
NM_001080453.3(INTS1):c.2493G>A (p.Ser831=) rs372785733 0.00008
NM_001080453.3(INTS1):c.2112C>T (p.Ala704=) rs573333009 0.00005
NM_001080453.3(INTS1):c.4188C>T (p.Pro1396=) rs749123315 0.00004
NM_001080453.3(INTS1):c.1680C>T (p.Ala560=) rs763175494 0.00003
NM_001080453.3(INTS1):c.2232C>T (p.Val744=) rs372134913 0.00003
NM_001080453.3(INTS1):c.4470C>T (p.Ala1490=) rs750218636 0.00003
NM_001080453.3(INTS1):c.1191G>A (p.Thr397=) rs373109167 0.00002
NM_001080453.3(INTS1):c.4227C>T (p.Leu1409=) rs1333370048 0.00002
NM_001080453.3(INTS1):c.2079G>C (p.Val693=) rs762086646 0.00001
NM_001080453.3(INTS1):c.2625C>G (p.Leu875=) rs775365622 0.00001
NM_001080453.3(INTS1):c.423G>C (p.Val141=) rs2128544972 0.00001
NM_001080453.3(INTS1):c.5325T>C (p.Ser1775=) rs374301655 0.00001
NM_001080453.3(INTS1):c.954C>T (p.Tyr318=) rs369100711 0.00001
NM_001080453.3(INTS1):c.-41-25T>A
NM_001080453.3(INTS1):c.1392C>T (p.Thr464=) rs201662739
NM_001080453.3(INTS1):c.1485G>A (p.Ser495=)
NM_001080453.3(INTS1):c.1554G>A (p.Gly518=)
NM_001080453.3(INTS1):c.1794C>T (p.Pro598=)
NM_001080453.3(INTS1):c.2001C>T (p.Leu667=)
NM_001080453.3(INTS1):c.2010G>A (p.Ala670=)
NM_001080453.3(INTS1):c.2055C>A (p.Ala685=) rs751539576
NM_001080453.3(INTS1):c.2088G>T (p.Val696=)
NM_001080453.3(INTS1):c.2401C>A (p.Arg801=) rs201096577
NM_001080453.3(INTS1):c.2598G>A (p.Leu866=)
NM_001080453.3(INTS1):c.3019GAG[1] (p.Glu1008del) rs552723932
NM_001080453.3(INTS1):c.3051G>A (p.Val1017=) rs371090231
NM_001080453.3(INTS1):c.3195C>T (p.Ala1065=) rs201874197
NM_001080453.3(INTS1):c.3891C>T (p.Gly1297=) rs573774369
NM_001080453.3(INTS1):c.4359C>G (p.Ser1453=) rs778154378
NM_001080453.3(INTS1):c.4758G>T (p.Leu1586=)
NM_001080453.3(INTS1):c.492C>T (p.Leu164=) rs2483389585
NM_001080453.3(INTS1):c.4995G>A (p.Thr1665=) rs780986340
NM_001080453.3(INTS1):c.5109T>C (p.His1703=)
NM_001080453.3(INTS1):c.5235G>A (p.Thr1745=) rs770264501
NM_001080453.3(INTS1):c.5255C>T (p.Thr1752Ile)
NM_001080453.3(INTS1):c.546+4T>C
NM_001080453.3(INTS1):c.582C>T (p.Ile194=)
NM_001080453.3(INTS1):c.6078C>T (p.Ser2026=)
NM_001080453.3(INTS1):c.657C>T (p.Asp219=)
NM_001080453.3(INTS1):c.705G>T (p.Leu235=) rs372143276
NM_001080453.3(INTS1):c.964G>A (p.Ala322Thr)

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