ClinVar Miner

List of variants in gene IQSEC2 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864 0.07175
NM_001111125.3(IQSEC2):c.477G>A (p.Leu159=) rs185512321 0.02235
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_001111125.3(IQSEC2):c.4326A>C (p.Pro1442=) rs797044650 0.00174
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=) rs781805662 0.00028
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=) rs147706810 0.00017
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=) rs782748026 0.00014
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) rs782536136 0.00009
NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser) rs797044752 0.00007
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286 0.00007
NM_001111125.3(IQSEC2):c.560G>A (p.Gly187Asp) rs886044891 0.00003
NM_001111125.3(IQSEC2):c.1695C>T (p.Asp565=) rs886044781 0.00002
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys) rs957057964 0.00002
NM_001111125.3(IQSEC2):c.600G>A (p.Arg200=) rs886044886 0.00001
NM_001111125.3(IQSEC2):c.2153G>A (p.Arg718Gln) rs1569301770
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp) rs267607186
NM_001111125.3(IQSEC2):c.4314A>C (p.Pro1438=) rs587780360

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