ClinVar Miner

List of variants reported for Donnai-Barrow syndrome by Daryl Scott Lab, Baylor College of Medicine

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser) rs138070797 0.00234
NM_004525.3(LRP2):c.3364A>G (p.Ile1122Val) rs149853330 0.00056
NM_004525.3(LRP2):c.5686G>A (p.Val1896Ile) rs139705387 0.00012
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp) rs747833963 0.00009
NM_004525.3(LRP2):c.3667+1G>A rs752197557 0.00001
NM_004525.3(LRP2):c.3608T>C (p.Val1203Ala) rs2105386662
NM_004525.3(LRP2):c.9230C>T (p.Pro3077Leu) rs2105305609

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