ClinVar Miner

List of variants reported as benign for autosomal recessive osteopetrosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_003701.4(TNFSF11):c.-127C>G rs9533157 0.99807
NM_003701.4(TNFSF11):c.*264G>T rs346575 0.99437
NM_000067.2(CA2):c.-181A>T rs11261477 0.98543
NM_003839.4(TNFRSF11A):c.*2590A>C rs884205 0.81374
NM_003701.4(TNFSF11):c.387+14G>A rs2277439 0.80621
NM_000067.3(CA2):c.562T>C (p.Leu188=) rs703 0.64073
NM_003701.4(TNFSF11):c.126T>C (p.Pro42=) rs2296533 0.47237
NM_014028.4(OSTM1):c.*331A>G rs9320250 0.41485
NM_003701.4(TNFSF11):c.*948G>T rs1054016 0.36610
NM_014028.4(OSTM1):c.*1883T>C rs7662 0.33096
NM_014028.4(OSTM1):c.*2301A>G rs9386700 0.32980
NM_006019.4(TCIRG1):c.417+11A>G rs3808974 0.32688
NM_014028.4(OSTM1):c.*1407A>G rs12567 0.24864
NM_014028.4(OSTM1):c.*1038A>G rs1064346 0.24805
NM_003839.4(TNFRSF11A):c.*1624G>C rs12455323 0.18364
NM_003839.4(TNFRSF11A):c.*2490A>G rs78459945 0.12123
NM_003839.4(TNFRSF11A):c.*2173A>T rs78326403 0.11998
NM_014028.4(OSTM1):c.*2283T>C rs112283202 0.09569
NM_014028.4(OSTM1):c.*2344C>G rs113263335 0.09290
NM_014028.4(OSTM1):c.*2329G>T rs112792700 0.08905
NM_003839.4(TNFRSF11A):c.*2537G>A rs72933641 0.07811
NM_003839.4(TNFRSF11A):c.*1810G>C rs72933640 0.07294
NM_014028.4(OSTM1):c.*2755A>G rs6921341 0.07269
NM_014028.4(OSTM1):c.*2547G>A rs111332944 0.05196
NM_014028.4(OSTM1):c.*1161G>A rs17069228 0.04528
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) rs36027301 0.04199
NM_014028.4(OSTM1):c.*2887G>A rs41287526 0.03905
NM_014028.4(OSTM1):c.*2053C>T rs17069215 0.03750
NM_014028.4(OSTM1):c.*1352A>G rs9372179 0.03746
NM_014028.4(OSTM1):c.*1334T>C rs9374008 0.03745
NM_014028.4(OSTM1):c.*1574A>G rs41287528 0.03604
NM_014028.4(OSTM1):c.*1367G>A rs73504439 0.03564
NM_014028.4(OSTM1):c.207G>T (p.Gly69=) rs80219951 0.03550
NM_003701.4(TNFSF11):c.924T>C (p.Phe308=) rs9562415 0.03075
NM_014028.4(OSTM1):c.156G>C (p.Leu52Phe) rs9480830 0.02937
NM_003701.4(TNFSF11):c.*48T>C rs7994018 0.02917
NM_000067.3(CA2):c.*212A>G rs73263450 0.02796
NM_003701.4(TNFSF11):c.*383C>T rs9567000 0.02228
NM_014028.4(OSTM1):c.*3329A>G rs112424495 0.02226
NM_014028.4(OSTM1):c.*3319T>G rs112919802 0.02222
NM_014028.4(OSTM1):c.221C>G (p.Pro74Arg) rs141735624 0.01817
NM_003839.4(TNFRSF11A):c.*1913A>G rs12721435 0.01660
NM_014028.4(OSTM1):c.*212A>G rs17069239 0.01518
NM_014028.4(OSTM1):c.*1427A>G rs116796449 0.01274
NM_014028.4(OSTM1):c.*1082G>A rs148730821 0.01114
NM_003839.4(TNFRSF11A):c.1397G>A (p.Arg466His) rs35993683 0.01070
NM_003839.4(TNFRSF11A):c.6C>G (p.Ala2=) rs35589394 0.01059
NM_003701.4(TNFSF11):c.147C>T (p.Phe49=) rs61735535 0.00938
NM_003701.4(TNFSF11):c.*704G>A rs34886516 0.00933
NM_003701.4(TNFSF11):c.*742G>A rs139327529 0.00897
NM_000067.3(CA2):c.*303C>T rs150089617 0.00878
NM_003701.4(TNFSF11):c.396A>G (p.Gln132=) rs34151971 0.00843
NM_014028.4(OSTM1):c.*2138G>T rs115370044 0.00824
NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu) rs35089741 0.00806
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr) rs75596506 0.00755
NM_003839.4(TNFRSF11A):c.*1738C>T rs6567277 0.00718
NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) rs138974661 0.00709
NM_014028.4(OSTM1):c.*355A>G rs61491262 0.00630
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_006019.4(TCIRG1):c.247A>G (p.Lys83Glu) rs142855299 0.00448
NM_003701.4(TNFSF11):c.80A>G (p.Glu27Gly) rs200788562 0.00262
NM_003839.4(TNFRSF11A):c.625G>A (p.Val209Ile) rs146793660 0.00253
NM_003839.4(TNFRSF11A):c.284-5C>T rs371545302 0.00130
NM_006019.4(TCIRG1):c.1715C>T (p.Pro572Leu) rs115854062 0.00098
NM_006019.4(TCIRG1):c.154G>C (p.Val52Leu) rs118141250 0.00038
NM_014028.4(OSTM1):c.960C>G (p.Leu320=) rs201793834 0.00001
NM_003839.4(TNFRSF11A):c.*1269G>C rs115023470
NM_003839.4(TNFRSF11A):c.*634C>G rs7232657
NM_006019.4(TCIRG1):c.384C>T (p.His128=) rs3808973

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