ClinVar Miner

List of variants studied for O'Donnell-Luria-Rodan syndrome by Baylor Genetics

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_182931.3(KMT2E):c.4235C>T (p.Ser1412Leu) rs1799314293 0.00001
NM_182931.3(KMT2E):c.1373A>T (p.Asp458Val) rs1798135752
NM_182931.3(KMT2E):c.13A>T (p.Ile5Phe)
NM_182931.3(KMT2E):c.1474_1481del (p.Gly492fs)
NM_182931.3(KMT2E):c.1698G>C (p.Gln566His)
NM_182931.3(KMT2E):c.2848-1G>A rs1798939855
NM_182931.3(KMT2E):c.3757A>G (p.Thr1253Ala) rs1799157164
NM_182931.3(KMT2E):c.4695C>A (p.Asn1565Lys)
NM_182931.3(KMT2E):c.4736A>T (p.Gln1579Leu)

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