ClinVar Miner

List of variants reported as pathogenic for achondrogenesis type IB by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val) rs104893916 0.00002
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) rs386833498

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