ClinVar Miner

List of variants reported as pathogenic for MRX49

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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HGVS dbSNP
CLCN4, 13-BP DEL
CLCN4, ARG718TRP
NM_001830.3(CLCN4):c.1606G>A (p.Val536Met)
NM_001830.3(CLCN4):c.1630G>A (p.Gly544Arg) rs587777161
NM_001830.3(CLCN4):c.2191G>C (p.Gly731Arg)
NM_001830.3(CLCN4):c.232G>A (p.Gly78Ser)
NM_001830.3(CLCN4):c.661C>G (p.Leu221Val)

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