ClinVar Miner

List of variants reported as benign for obsolete MRX52 by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.1347C>T (p.Gly449=) rs75489697 0.01993
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_139058.3(ARX):c.1074-3T>C rs200700643 0.00337
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00093
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly) rs778734352 0.00023
NM_139058.3(ARX):c.663C>T (p.Thr221=) rs1006404746 0.00017
NM_139058.3(ARX):c.1119+6C>T rs201300786 0.00015
NM_139058.3(ARX):c.148T>C (p.Leu50=) rs370342380 0.00015
NM_139058.3(ARX):c.223T>G (p.Phe75Val) rs999545482 0.00005
NM_139058.3(ARX):c.99G>A (p.Leu33=) rs756804509 0.00004
NM_139058.3(ARX):c.1524G>A (p.Val508=) rs1056460685 0.00002
NM_139058.3(ARX):c.300G>A (p.Ala100=) rs797045294 0.00002
NM_139058.3(ARX):c.361C>A (p.Pro121Thr) rs1308958274 0.00002
NM_139058.3(ARX):c.1521C>A (p.Ala507=) rs777179729 0.00001
NM_139058.3(ARX):c.738C>T (p.Asp246=) rs750465338 0.00001
NM_139058.3(ARX):c.1073+20G>A
NM_139058.3(ARX):c.1186C>A (p.Pro396Thr) rs776523818
NM_139058.3(ARX):c.1272G>T (p.Pro424=) rs398124507
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.1333C>T (p.Pro445Ser) rs2147320407
NM_139058.3(ARX):c.1345G>A (p.Gly449Ser) rs2147320401
NM_139058.3(ARX):c.215G>C (p.Ser72Thr) rs1556056580
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[9] (p.Ala115del) rs387906492
NM_139058.3(ARX):c.421G>A (p.Gly141Ser) rs2048712606
NM_139058.3(ARX):c.433G>T (p.Ala145Ser) rs1438576250
NM_139058.3(ARX):c.441_455del (p.Ala151_Ala155del) rs750585274
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510

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