ClinVar Miner

List of variants reported as benign for acromesomelic dysplasia 1, Maroteaux type

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_003995.4(NPR2):c.18T>C (p.Leu6=) rs2228580 0.28033
NM_003995.4(NPR2):c.1794C>T (p.Tyr598=) rs5812 0.27923
NM_003995.4(NPR2):c.668-4C>A rs61758517 0.00383
NM_003995.4(NPR2):c.873+13C>A rs61758520 0.00377
NM_003995.4(NPR2):c.2434T>C (p.Leu812=) rs115119353 0.00161
NM_003995.4(NPR2):c.999C>T (p.Ile333=) rs28764009 0.00029
NM_003995.4(NPR2):c.2643+10A>G rs200486126 0.00022
NM_003995.4(NPR2):c.2519+15C>T rs370934186 0.00016
NM_003995.4(NPR2):c.2519+9T>C rs185385838 0.00016
NM_003995.4(NPR2):c.2359C>T (p.Arg787Trp) rs114147262 0.00013
NM_003995.4(NPR2):c.1633-10C>A rs201550050 0.00012
NM_003995.4(NPR2):c.2047+11C>T rs200583592 0.00002
NM_003995.4(NPR2):c.2712+11_2712+19del rs58759471
NM_003995.4(NPR2):c.2901T>G (p.Ala967=)
NM_003995.4(NPR2):c.915G>A (p.Glu305=) rs773637376

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