List of variants reported as uncertain significance for Bloom syndrome by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)	rs149754073	0.00086
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)	rs146504061	0.00056
NM_000057.4(BLM):c.191A>T (p.Asp64Val)	rs140382474	0.00026
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys)	rs557057587	0.00023
NM_000057.4(BLM):c.1927C>T (p.Arg643Cys)	rs373090621	0.00017
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile)	rs202196488	0.00013
NM_000057.4(BLM):c.1087G>A (p.Ala363Thr)	rs200364297	0.00012
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)	rs139610577	0.00012
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln)	rs201770808	0.00010
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)	rs150631940	0.00010
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser)	rs141269464	0.00008
NM_000057.4(BLM):c.2720C>T (p.Thr907Met)	rs367953471	0.00007
NM_000057.4(BLM):c.1931T>A (p.Phe644Tyr)	rs371023654	0.00006
NM_000057.4(BLM):c.542G>T (p.Ser181Ile)	rs587779893	0.00006
NM_000057.4(BLM):c.715G>A (p.Asp239Asn)	rs200756519	0.00006
NM_000057.4(BLM):c.1657A>G (p.Ile553Val)	rs778873363	0.00004
NM_000057.4(BLM):c.361A>C (p.Thr121Pro)	rs774608080	0.00004
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr)	rs1024172175	0.00003
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr)	rs587779885	0.00003
NM_000057.4(BLM):c.3422A>G (p.Asn1141Ser)	rs770370129	0.00003
NM_000057.4(BLM):c.820A>G (p.Asn274Asp)	rs750551907	0.00003
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys)	rs730880251	0.00002
NM_000057.4(BLM):c.2357G>A (p.Arg786Lys)	rs369065966	0.00001
NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln)	rs771776126	0.00001
NM_000057.4(BLM):c.3865A>T (p.Thr1289Ser)	rs1060500645	0.00001
NM_000057.4(BLM):c.577T>C (p.Phe193Leu)	rs779348937	0.00001
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro)	rs368547042
NM_000057.4(BLM):c.1631A>G (p.Glu544Gly)	rs1567041307
NM_000057.4(BLM):c.2212A>G (p.Thr738Ala)	rs1050741211
NM_000057.4(BLM):c.2452C>T (p.Arg818Cys)	rs1279814185
NM_000057.4(BLM):c.2891C>T (p.Ala964Val)	rs1896883497
NM_000057.4(BLM):c.348G>C (p.Lys116Asn)	rs749535664
NM_000057.4(BLM):c.3775G>A (p.Val1259Ile)	rs1897348236
NM_000057.4(BLM):c.883G>T (p.Asp295Tyr)	rs146096923

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