ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001330360.2(POLA1):c.1207G>A (p.Asp403Asn) rs774419889 0.00001
NM_019597.5(HNRNPH2):c.85C>T (p.Arg29Cys) rs1555988314 0.00001
NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser) rs1603326578
NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile) rs751468976
NM_001830.4(CLCN4):c.1399G>A (p.Gly467Ser) rs1602159841
NM_003491.4(NAA10):c.259G>T (p.Ala87Ser) rs1557107543
NM_005120.3(MED12):c.2546C>T (p.Ser849Phe)
NM_006517.5(SLC16A2):c.731del (p.Met244fs)
NM_006521.6(TFE3):c.374_379del (p.123AQ[1])
NM_007325.5(GRIA3):c.1949C>T (p.Ala650Val)
NM_031407.7(HUWE1):c.6098-20_6109del rs1602738933
NM_203475.3(PORCN):c.341T>G (p.Met114Arg)

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