ClinVar Miner

List of variants studied for X-linked disease by Athena Diagnostics Inc

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153
NM_000054.6(AVPR2):c.26-6T>G rs56689668
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) rs139643362
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.820C>T (p.Gln274Ter) rs267608525
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_139058.3(ARX):c.1347C>T (p.Gly449=) rs75489697
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161

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