ClinVar Miner

List of variants in gene BLK, LOC126860303 studied for pancreas disorder

Included ClinVar conditions (165):
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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001715.3(BLK):c.435C>T (p.Ala145=) rs7836533 0.01672
NM_001715.3(BLK):c.472+12G>A rs145058498 0.00652
NM_001715.3(BLK):c.424A>G (p.Ile142Val) rs562247916 0.00021
NM_001715.3(BLK):c.369-2A>G rs137986278 0.00005
NM_001715.3(BLK):c.465C>G (p.Thr155=) rs375035401 0.00004
NM_001715.3(BLK):c.391C>A (p.Arg131=) rs73663163
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001715.3(BLK):c.437G>C (p.Gly146Ala)
NM_001715.3(BLK):c.458G>A (p.Ser153Asn)

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