ClinVar Miner

List of variants reported as likely benign for Bloom syndrome by Mendelics

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000057.4(BLM):c.1088-40T>C rs184128669 0.00278
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266 0.00213
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725 0.00090
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.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754 0.00006
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306 0.00003
NM_000057.4(BLM):c.2210_2211insA (p.Thr738fs) rs758886088 0.00003
NM_000057.4(BLM):c.2212_2213insTTC (p.Thr738delinsIlePro) rs780538610 0.00003
NM_000057.4(BLM):c.3019+17T>C rs532036885 0.00002
NM_000057.4(BLM):c.963G>A (p.Thr321=) rs779461745 0.00002
NM_000057.4(BLM):c.2784T>C (p.Asp928=) rs1032746564 0.00001
NM_000057.4(BLM):c.3875-6T>C rs1021714718 0.00001
NM_000057.4(BLM):c.1088-38C>T rs758949040
NM_000057.4(BLM):c.1088-39C>T rs878957002
NM_000057.4(BLM):c.2074+56G>A rs942432763

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