ClinVar Miner

List of variants reported as likely benign for cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_170675.5(MEIS2):c.810G>A (p.Pro270=) rs183075611 0.00026
NM_170675.5(MEIS2):c.471T>C (p.His157=) rs137952617 0.00021
NM_170675.5(MEIS2):c.1147+18G>A rs554939676 0.00011
NM_170675.5(MEIS2):c.120C>T (p.Asn40=) rs144628203 0.00011
NM_170675.5(MEIS2):c.150C>T (p.His50=) rs375301418 0.00004
NM_170675.5(MEIS2):c.939G>A (p.Ala313=) rs140793410 0.00004
NM_170675.5(MEIS2):c.495C>T (p.His165=) rs749484440 0.00002
NM_170675.5(MEIS2):c.237G>T (p.Ala79=) rs1349133404 0.00001
NM_170675.5(MEIS2):c.490-7G>A rs1429889725 0.00001
NM_170675.5(MEIS2):c.780T>G (p.Ala260=) rs747805966 0.00001
NM_170675.5(MEIS2):c.1065A>G (p.Gln355=)
NM_170675.5(MEIS2):c.1147+17C>T
NM_170675.5(MEIS2):c.13-19C>G
NM_170675.5(MEIS2):c.246-17G>C rs755478168
NM_170675.5(MEIS2):c.327T>C (p.Ala109=)
NM_170675.5(MEIS2):c.330C>T (p.Gly110=)
NM_170675.5(MEIS2):c.438+16C>T
NM_170675.5(MEIS2):c.490-16A>G
NM_170675.5(MEIS2):c.579C>T (p.Asp193=)
NM_170675.5(MEIS2):c.603A>G (p.Glu201=) rs2140088565
NM_170675.5(MEIS2):c.657A>G (p.Arg219=) rs1041428405
NM_170675.5(MEIS2):c.687A>C (p.Ser229=) rs1183529709
NM_170675.5(MEIS2):c.6G>A (p.Ala2=)
NM_170675.5(MEIS2):c.754+7G>C
NM_170675.5(MEIS2):c.897C>T (p.Leu299=) rs2141736264
NM_170675.5(MEIS2):c.96G>T (p.Pro32=) rs1301048671

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