ClinVar Miner

List of variants reported as benign for Microphthalmia with brain and digit anomalies; Orofacial cleft 11 by Invitae

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
NM_001202.6(BMP4):c.370+28G>A rs72680532 0.00883
NM_001202.6(BMP4):c.228T>A (p.Ser76Arg) rs114957446 0.00211
NM_001202.6(BMP4):c.76T>C (p.Leu26=) rs74486266 0.00205
NM_001202.6(BMP4):c.860G>A (p.Arg287His) rs121912768 0.00082
NM_001202.6(BMP4):c.345C>T (p.Asn115=) rs143687498 0.00050
NM_001202.6(BMP4):c.450C>T (p.Asn150=) rs767216159 0.00003
NM_001202.6(BMP4):c.-7-159T>G rs35107139
NM_001202.6(BMP4):c.-7-163C>G rs10130587
NM_001202.6(BMP4):c.213G>T (p.Pro71=)
NM_001202.6(BMP4):c.370+160C>T rs2071047

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