ClinVar Miner

List of variants studied for Bloom syndrome by GeneReviews

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_000057.2(BLM):c.2308-953_2555+4719del
NM_000057.3(BLM):c.3751-?_*(177_?)del
NM_000057.4(BLM):c.1088-2A>G rs367543015
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1628T>A (p.Leu543Ter) rs367543038
NM_000057.4(BLM):c.2074+1G>T rs367543036
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028
NM_000057.4(BLM):c.2193+2T>G rs367543040
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2406+2T>G rs367543016
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter) rs367543039
NM_000057.4(BLM):c.275del (p.Asn92fs) rs367543027
NM_000057.4(BLM):c.2855G>T (p.Gly952Val) rs367543034
NM_000057.4(BLM):c.2887C>T (p.His963Tyr) rs367543023
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.311C>A (p.Ser104Ter) rs367543030
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3191A>T (p.Asp1064Val) rs367543032
NM_000057.4(BLM):c.3197G>A (p.Cys1066Tyr) rs367543025
NM_000057.4(BLM):c.3223dup (p.Arg1075fs) rs367543022
NM_000057.4(BLM):c.3255_3256insT (p.Arg1086Ter) rs367543037
NM_000057.4(BLM):c.3278C>G (p.Ser1093Ter) rs367543017
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3558+1G>A rs148969222
NM_000057.4(BLM):c.3587del (p.Ser1196fs) rs367543018
NM_000057.4(BLM):c.3681del (p.Lys1227fs) rs367543020
NM_000057.4(BLM):c.3727dup (p.Thr1243fs) rs367543021
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035
NM_000057.4(BLM):c.582del (p.Phe194fs) rs367543026
NM_000057.4(BLM):c.768_769CT[2] (p.Leu258fs) rs367543013

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