ClinVar Miner

List of variants reported as benign for achondrogenesis type IB by Natera, Inc.

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) rs30832 0.99306
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=) rs61732052 0.01353
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val) rs35919114 0.00795
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=) rs115777661 0.00017

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