ClinVar Miner

List of variants studied for Pseudoxanthoma elasticum by Sharon lab,Hadassah-Hebrew University Medical Center

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Total variants: 5
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HGVS dbSNP
NM_001171.5(ABCC6):c.1413del (p.Arg473fs)
NM_001171.5(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174
NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706
NM_001171.5(ABCC6):c.3883-6G>A rs72664214
NM_001171.5(ABCC6):c.4424G>A (p.Gly1475Glu)

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