ClinVar Miner

List of variants studied for acromesomelic dysplasia by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter) rs1057519324 0.00001
NM_001203.3(BMPR1B):c.-17-52823C>T
NM_001203.3(BMPR1B):c.1252+410A>G
NM_003995.4(NPR2):c.130C>T (p.Arg44Trp)
NM_003995.4(NPR2):c.2116G>C (p.Asp706His) rs2132090468
NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln) rs771373457
NM_003995.4(NPR2):c.448G>A (p.Gly150Ser) rs2132066800

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