ClinVar Miner

List of variants in gene ISCU studied for not specified

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_213595.4(ISCU):c.27G>T (p.Leu9=) rs11837563 0.02615
NM_213595.4(ISCU):c.51G>A (p.Leu17=) rs112552261 0.00804
NM_213595.4(ISCU):c.52C>A (p.Leu18Met) rs142514490 0.00291
NM_213595.4(ISCU):c.229-5T>C rs761922921 0.00014
NM_213595.4(ISCU):c.*14G>A rs199557747 0.00012
NM_213595.4(ISCU):c.*13C>T rs778880231 0.00010
NM_213595.4(ISCU):c.291C>T (p.Ser97=) rs202085340 0.00006
NM_213595.4(ISCU):c.144C>T (p.Asn48=) rs368028981 0.00002
NM_213595.4(ISCU):c.-19G>T rs1343944229 0.00001
NM_213595.4(ISCU):c.165A>G (p.Thr55=) rs950571558 0.00001
NM_213595.4(ISCU):c.228+11T>C rs767846973 0.00001
NM_213595.4(ISCU):c.339+14C>T rs770808877
NM_213595.4(ISCU):c.339+6dup rs863224043

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