ClinVar Miner

List of variants in gene BLM reported as uncertain significance by Counsyl

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Gene type:
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Total variants: 35
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HGVS dbSNP
NM_000057.4(BLM):c.1070C>T (p.Thr357Ile) rs1555419001
NM_000057.4(BLM):c.129_130insTAT (p.Asp44_Asn45insTyr) rs778786003
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg) rs878853553
NM_000057.4(BLM):c.1624G>T (p.Asp542Tyr) rs1555419932
NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del) rs1555419934
NM_000057.4(BLM):c.1913A>G (p.Asn638Ser) rs587778110
NM_000057.4(BLM):c.1964_1966TGA[1] (p.Met656del) rs1555420164
NM_000057.4(BLM):c.1978C>T (p.His660Tyr) rs139688226
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu) rs761589072
NM_000057.4(BLM):c.2150G>C (p.Arg717Thr) rs28406486
NM_000057.4(BLM):c.228_233del (p.Leu77_Pro78del) rs1555418278
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859
NM_000057.4(BLM):c.2407-7del rs769184675
NM_000057.4(BLM):c.2407-9del rs747699258
NM_000057.4(BLM):c.24T>G (p.Asn8Lys) rs1060500635
NM_000057.4(BLM):c.264_266CTT[1] (p.Phe90del) rs1555418301
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr) rs1024172175
NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr) rs1555423425
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707
NM_000057.4(BLM):c.318_320ATT[1] (p.Leu108del) rs1555418313
NM_000057.4(BLM):c.3210+4A>G rs776621429
NM_000057.4(BLM):c.3242T>A (p.Val1081Glu) rs762716289
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg) rs587779889
NM_000057.4(BLM):c.4039_4048del (p.Arg1347fs) rs1555425105
NM_000057.4(BLM):c.4123del (p.Ser1375fs) rs1555425410
NM_000057.4(BLM):c.4132G>T (p.Gly1378Ter) rs1555425417
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg) rs747834576
NM_000057.4(BLM):c.4252T>A (p.Ter1418Lys) rs1555425441
NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del) rs773427744
NM_000057.4(BLM):c.489_497dup (p.Glu164_Ser166dup) rs1555418362
NM_000057.4(BLM):c.678_680dup (p.Asp227dup) rs1555418424
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) rs200756519
NM_000057.4(BLM):c.98+3_98+6del rs1555418015

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