ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive hypophosphatemic rickets

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004407.4(DMP1):c.135+1G>T rs141480996 0.00013
NM_004407.4(DMP1):c.55-1G>C rs587776697 0.00002
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe) rs763922486

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