ClinVar Miner

List of variants studied for Congenital short bowel syndrome, autosomal recessive

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_024769.5(CLMP):c.821G>A (p.Arg274Gln) rs587776965 0.00001
NM_024769.5(CLMP):c.230del (p.Glu77fs) rs587776964
NM_024769.5(CLMP):c.23T>A (p.Leu8Ter)
NM_024769.5(CLMP):c.28+1G>A
NM_024769.5(CLMP):c.371T>A (p.Val124Asp) rs587776967
NM_024769.5(CLMP):c.508C>T (p.Arg170Ter) rs765907815
NM_024769.5(CLMP):c.574C>T (p.Arg192Ter) rs1394600425
NM_024769.5(CLMP):c.664C>T (p.Arg222Ter) rs587776966

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