ClinVar Miner

List of variants in gene combination ARX, LOC109610631 reported as likely benign for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_139058.3(ARX):c.306G>T (p.Ala102=) rs587783196
NM_139058.3(ARX):c.306_308GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.306_308GGC[7] (p.Ala113_Ala115del) rs387906492
NM_139058.3(ARX):c.336A>G (p.Ala112=) rs794727308
NM_139058.3(ARX):c.351C>A (p.Ala117=) rs1313243538
NM_139058.3(ARX):c.372G>A (p.Glu124=) rs1006764242
NM_139058.3(ARX):c.438_458del (p.Ala149_Ala155del)
NM_139058.3(ARX):c.441A>C (p.Ala147=) rs797045301
NM_139058.3(ARX):c.441A>G (p.Ala147=) rs797045301
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_139058.3(ARX):c.447G>C (p.Ala149=) rs745705522
NM_139058.3(ARX):c.450C>A (p.Ala150=) rs1410039382

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