ClinVar Miner

List of variants reported as uncertain significance for acromesomelic dysplasia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000557.5(GDF5):c.-134C>G rs144924248 0.00155
NM_003995.4(NPR2):c.1351+10T>C rs199798952 0.00063
NM_003995.4(NPR2):c.*270A>T rs61758534 0.00042
NM_003995.4(NPR2):c.90G>A (p.Val30=) rs56036598 0.00041
NM_003995.4(NPR2):c.697C>T (p.Leu233=) rs61758518 0.00028
NM_000557.5(GDF5):c.855C>T (p.Gly285=) rs149593773 0.00025
NM_003995.4(NPR2):c.3087A>C (p.Gly1029=) rs138254005 0.00025
NM_003995.4(NPR2):c.1572C>T (p.Tyr524=) rs150393424 0.00017
NM_000557.5(GDF5):c.*259G>C rs150833046 0.00016
NM_000557.5(GDF5):c.-30C>A rs375024998 0.00016
NM_003995.4(NPR2):c.2519+15C>T rs370934186 0.00016
NM_003995.4(NPR2):c.2840G>A (p.Arg947His) rs145008570 0.00012
NM_003995.4(NPR2):c.830A>G (p.Asn277Ser) rs770531192 0.00011
NM_003995.4(NPR2):c.336C>G (p.Ala112=) rs533386555 0.00009
NM_000557.5(GDF5):c.-220C>T rs886056643 0.00004
NM_000557.5(GDF5):c.-236G>A rs1190526111 0.00004
NM_003995.4(NPR2):c.2460A>C (p.Thr820=) rs754928680 0.00004
NM_003995.4(NPR2):c.1644C>T (p.Val548=) rs772510686 0.00003
NM_003995.4(NPR2):c.2721G>A (p.Thr907=) rs758549770 0.00003
NM_003995.4(NPR2):c.725G>A (p.Arg242Lys) rs774099913 0.00003
NM_003995.4(NPR2):c.833G>A (p.Arg278His) rs114995755 0.00003
NM_003995.4(NPR2):c.952C>T (p.Arg318Trp) rs764711038 0.00003
NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) rs542574339 0.00002
NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) rs373973964 0.00002
NM_003995.4(NPR2):c.1711-9T>G rs777590147 0.00002
NM_003995.4(NPR2):c.2519+3G>A rs749445629 0.00002
NM_003995.4(NPR2):c.649A>T (p.Ile217Phe) rs191155989 0.00002
NM_000557.5(GDF5):c.*166G>A rs569761315 0.00001
NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser) rs367914931 0.00001
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807 0.00001
NM_000557.5(GDF5):c.1374C>G (p.Pro458=) rs776415223 0.00001
NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) rs768978933 0.00001
NM_000557.5(GDF5):c.483G>A (p.Pro161=) rs752789551 0.00001
NM_000557.5(GDF5):c.57G>T (p.Leu19=) rs746980493 0.00001
NM_000557.5(GDF5):c.631+6G>A rs768697784 0.00001
NM_003995.4(NPR2):c.*2C>T rs778618798 0.00001
NM_003995.4(NPR2):c.1437-3C>T rs1181538946 0.00001
NM_003995.4(NPR2):c.1887+11C>G rs761623564 0.00001
NM_003995.4(NPR2):c.2252G>A (p.Ser751Asn) rs114207425 0.00001
NM_003995.4(NPR2):c.2261G>A (p.Arg754Gln) rs763488261 0.00001
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln) rs780293535 0.00001
NM_003995.4(NPR2):c.2337T>C (p.Phe779=) rs115369552 0.00001
NM_003995.4(NPR2):c.2351G>A (p.Gly784Asp) rs771399009 0.00001
NM_003995.4(NPR2):c.2833C>T (p.Arg945Cys) rs781398693 0.00001
NM_003995.4(NPR2):c.3063G>C (p.Gly1021=) rs774392843 0.00001
NM_003995.4(NPR2):c.312T>C (p.Pro104=) rs886063910 0.00001
NM_003995.4(NPR2):c.853G>A (p.Ala285Thr) rs886063911 0.00001
NM_000557.5(GDF5):c.-97T>C rs960967052
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) rs199666386
NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) rs1601074882
NM_000557.5(GDF5):c.506C>A (p.Pro169His) rs2062477372
NM_003995.4(NPR2):c.1403T>G (p.Ile468Ser) rs886063912
NM_003995.4(NPR2):c.1802G>T (p.Arg601Leu) rs180950551
NM_003995.4(NPR2):c.1815+2T>C rs1563988864
NM_003995.4(NPR2):c.190C>T (p.Leu64=) rs1588050194
NM_003995.4(NPR2):c.2523A>G (p.Ser841=) rs758756963
NM_003995.4(NPR2):c.98A>C (p.Glu33Ala) rs886063909

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