ClinVar Miner

List of variants studied for MRX49

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP
CLCN4, 13-BP DEL
CLCN4, ARG718TRP
NM_001830.4(CLCN4):c.10G>T (p.Ala4Ser) rs1015209935
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser) rs1555976973
NM_001830.4(CLCN4):c.1606G>A (p.Val536Met) rs1569231897
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg) rs587777161
NM_001830.4(CLCN4):c.2191G>C (p.Gly731Arg) rs1569233549
NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser) rs1569226551
NM_001830.4(CLCN4):c.661C>G (p.Leu221Val) rs1569230006

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