ClinVar Miner

List of variants in gene combination LMBR1, SHH reported as likely benign for Holoprosencephaly 3

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_022458.4(LMBR1):c.424-5571C>T rs116257411 0.00077
NM_022458.4(LMBR1):c.423+7042C>T rs114908146 0.00071
NM_022458.4(LMBR1):c.424-15747A>G rs926894818 0.00030
NM_022458.4(LMBR1):c.423+341T>C rs969290071 0.00024
NM_022458.4(LMBR1):c.424-189A>G rs1390665963 0.00014
NM_022458.4(LMBR1):c.423+6677C>T rs950345080 0.00013
NM_022458.4(LMBR1):c.423+101T>C rs1310694365 0.00005
NM_022458.4(LMBR1):c.423+6638C>T
NM_022458.4(LMBR1):c.423+6944C>T
NM_022458.4(LMBR1):c.423+6953A>G
NM_022458.4(LMBR1):c.424-15675C>T
NM_022458.4(LMBR1):c.424-15749C>G rs529780075
NM_022458.4(LMBR1):c.424-191T>C
NM_022458.4(LMBR1):c.424-473C>T rs182107923
NM_022458.4(LMBR1):c.424-5213_424-5211del
NM_022458.4(LMBR1):c.424-5352T>C
NM_022458.4(LMBR1):c.424-5422C>T
NM_022458.4(LMBR1):c.424-5613A>C rs755035014

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