List of variants reported as uncertain significance for Bloom syndrome by Mendelics

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		ClinVar version:

Total variants: 45

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)	rs35224686	0.00092
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)	rs145022945	0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)	rs1801256	0.00031
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)	rs148545569	0.00029
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)	rs200690226	0.00015
NM_000057.4(BLM):c.1315A>G (p.Met439Val)	rs201231857	0.00011
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)	rs150631940	0.00010
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)	rs140387675	0.00008
NM_000057.4(BLM):c.2720C>T (p.Thr907Met)	rs367953471	0.00007
NM_000057.4(BLM):c.2237C>T (p.Ala746Val)	rs769498533	0.00006
NM_000057.4(BLM):c.2475G>A (p.Pro825=)	rs147587050	0.00006
NM_000057.4(BLM):c.934T>G (p.Ser312Ala)	rs372454889	0.00005
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)	rs750532596	0.00004
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys)	rs777842626	0.00003
NM_000057.4(BLM):c.4016T>C (p.Met1339Thr)	rs761320085	0.00002
NM_000057.4(BLM):c.1417A>G (p.Thr473Ala)	rs1596229797	0.00001
NM_000057.4(BLM):c.1613C>T (p.Ala538Val)	rs778593808	0.00001
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu)	rs749632465	0.00001
NM_000057.4(BLM):c.2497G>A (p.Ala833Thr)	rs763918749	0.00001
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn)	rs758692622	0.00001
NM_000057.4(BLM):c.3098T>C (p.Ile1033Thr)	rs1060500647	0.00001
NM_000057.4(BLM):c.572G>T (p.Arg191Ile)	rs569086568	0.00001
NM_000057.4(BLM):c.635C>T (p.Ser212Phe)	rs777938065	0.00001
NM_000057.4(BLM):c.1088-35C>T	rs1359919212
NM_000057.4(BLM):c.1197A>T (p.Glu399Asp)	rs1596228991
NM_000057.4(BLM):c.1228C>T (p.Leu410Phe)	rs200688933
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile)	rs751600686
NM_000057.4(BLM):c.14C>T (p.Pro5Leu)	rs1567034056
NM_000057.4(BLM):c.1888T>C (p.Ser630Pro)	rs1567042153
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg)	rs377563699
NM_000057.4(BLM):c.1972A>G (p.Ile658Val)	rs1567042248
NM_000057.4(BLM):c.199G>A (p.Val67Ile)	rs991350762
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)	rs746195311
NM_000057.4(BLM):c.2362C>G (p.Leu788Val)	rs149754073
NM_000057.4(BLM):c.241A>G (p.Thr81Ala)	rs1060500637
NM_000057.4(BLM):c.2570T>C (p.Phe857Ser)	rs1567052169
NM_000057.4(BLM):c.3065A>C (p.Asn1022Thr)	rs1567058281
NM_000057.4(BLM):c.3340C>T (p.Leu1114=)	rs1567060305
NM_000057.4(BLM):c.4148C>G (p.Ser1383Ter)	rs1567068960
NM_000057.4(BLM):c.4196T>C (p.Met1399Thr)	rs1567069030
NM_000057.4(BLM):c.532G>A (p.Val178Ile)	rs1191794374
NM_000057.4(BLM):c.615G>C (p.Lys205Asn)	rs28903082
NM_000057.4(BLM):c.645C>G (p.Ser215Arg)	rs56218710
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del)	rs587779895
NM_000057.4(BLM):c.842A>G (p.His281Arg)	rs202042636

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