ClinVar Miner

List of variants reported as uncertain significance for rhizomelic chondrodysplasia punctata type 1 by Natera, Inc.

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_000288.4(PEX7):c.418-4G>T rs199552223 0.00054
NM_000288.4(PEX7):c.128C>T (p.Ala43Val) rs780369944 0.00052
NM_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_000288.4(PEX7):c.903+8A>G rs779919482 0.00003
NM_000288.4(PEX7):c.96G>A (p.Leu32=) rs1397119638 0.00001
NM_000288.4(PEX7):c.330C>T (p.His110=) rs199648976
NM_000288.4(PEX7):c.449C>T (p.Thr150Ile) rs957954726
NM_000288.4(PEX7):c.760C>T (p.His254Tyr) rs1775195476

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