ClinVar Miner

List of variants reported as benign for X-linked intellectual disability-epilepsy syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_005765.3(ATP6AP2):c.534+45G>C rs3112299 0.91713
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) rs7691 0.11555
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169 0.06912
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522 0.02009
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=) rs34217273 0.01468
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426 0.01400
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715 0.01073
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626 0.00997
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561 0.00798
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176 0.00272
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503 0.00253
NM_005765.3(ATP6AP2):c.38-5T>C rs190477001 0.00243
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=) rs79790275 0.00141
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758 0.00118
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=) rs199628956 0.00055
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=) rs140777637 0.00039
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) rs141816797 0.00038
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222 0.00038
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689 0.00035
NM_001353921.2(ARHGEF9):c.939C>G (p.Asp313Glu) rs143490560 0.00025
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001353921.2(ARHGEF9):c.946-4C>A rs56398019 0.00020
NM_001353921.2(ARHGEF9):c.1330A>G (p.Ile444Val) rs141815718 0.00018
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=) rs749602848 0.00016
NM_001353921.2(ARHGEF9):c.946-16C>T rs781867369 0.00011
NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu) rs371605184 0.00008
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=) rs150129110 0.00008
NM_001353921.2(ARHGEF9):c.447C>T (p.Asp149=) rs782313473 0.00007
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) rs368963363 0.00005
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val) rs781988728 0.00005
NM_001353921.2(ARHGEF9):c.1402G>T (p.Ala468Ser) rs781870482 0.00005
NM_001353921.2(ARHGEF9):c.729T>C (p.Asp243=) rs781930227 0.00005
NM_001353921.2(ARHGEF9):c.747A>C (p.Pro249=) rs369716500 0.00005
NM_005765.3(ATP6AP2):c.357G>A (p.Glu119=) rs138952430 0.00005
NM_001353921.2(ARHGEF9):c.555C>T (p.Ser185=) rs782520132 0.00004
NM_001353921.2(ARHGEF9):c.564A>T (p.Gly188=) rs782187939 0.00003
NM_001353921.2(ARHGEF9):c.105A>G (p.Ala35=) rs782666474 0.00002
NM_001353921.2(ARHGEF9):c.1077+13C>G rs782189949 0.00001
NM_001353921.2(ARHGEF9):c.29T>C (p.Met10Thr) rs1421919089 0.00001
NM_001353921.2(ARHGEF9):c.31-16C>T rs782420279 0.00001
NM_001353921.2(ARHGEF9):c.403-19G>A rs782062229 0.00001
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile) rs1384182085 0.00001
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.2(PCDH19):c.661A>T (p.Thr221Ser)
NM_001353921.2(ARHGEF9):c.1321+16G>T
NM_001353921.2(ARHGEF9):c.1322-10del
NM_001353921.2(ARHGEF9):c.1473C>A (p.Asp491Glu) rs374753195
NM_001353921.2(ARHGEF9):c.1548C>T (p.Ser516=)
NM_001353921.2(ARHGEF9):c.270C>T (p.His90=)
NM_001353921.2(ARHGEF9):c.30+10T>C
NM_001353921.2(ARHGEF9):c.583-13del
NM_001353921.2(ARHGEF9):c.781G>T (p.Ala261Ser) rs782497496
NM_001353921.2(ARHGEF9):c.816-12_816-11del rs781845457
NM_005765.3(ATP6AP2):c.132C>T (p.Asp44=)
NM_005765.3(ATP6AP2):c.534+10G>C rs758140053

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