ClinVar Miner

List of variants reported as likely benign for Bloom syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000057.3(BLM):c.1122T>C (p.His374=) rs28385009
NM_000057.3(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.3(BLM):c.3102G>A (p.Thr1034=) rs2227933
NM_000057.3(BLM):c.3531C>A (p.Ala1177=) rs2227934
NM_000057.3(BLM):c.3945C>T (p.Leu1315=) rs1063147
NM_000057.3(BLM):c.3961G>A (p.Val1321Ile) rs7167216
NM_000057.3(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000057.3(BLM):c.893C>T (p.Thr298Met) rs28384991

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