ClinVar Miner

List of variants studied for obsolete MRX52 by OMIM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) rs28935479 0.00001
ARX, ARG2085HIS
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_139058.3(ARX):c.98T>C (p.Leu33Pro) rs28936077

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