ClinVar Miner

List of variants in gene FERMT3 reported as benign for autosomal recessive osteopetrosis

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_031471.6(FERMT3):c.787-10C>A rs11603538 0.33480
NM_031471.6(FERMT3):c.1506C>T (p.Leu502=) rs3802933 0.17484
NM_031471.6(FERMT3):c.161-16C>G rs78038516 0.10980
NM_031471.6(FERMT3):c.1449G>A (p.Pro483=) rs3802932 0.09305
NM_031471.6(FERMT3):c.729C>T (p.Ala243=) rs17851033 0.05878
NM_031471.6(FERMT3):c.895-4C>T rs59250939 0.05738
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=) rs76744324 0.01379
NM_031471.6(FERMT3):c.405C>T (p.His135=) rs78810429 0.00926
NM_031471.6(FERMT3):c.1030-12G>C rs77762249 0.00871
NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg) rs149000560 0.00578
NM_031471.6(FERMT3):c.1917G>A (p.Thr639=) rs150686744 0.00396
NM_031471.6(FERMT3):c.684-5C>G rs112945490 0.00390
NM_031471.6(FERMT3):c.249C>T (p.Tyr83=) rs137865691 0.00245
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428 0.00235
NM_031471.6(FERMT3):c.1404C>T (p.Ala468=) rs201501349 0.00188
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390 0.00178
NM_031471.6(FERMT3):c.527C>T (p.Ala176Val) rs113348354 0.00146
NM_031471.6(FERMT3):c.161-11G>A rs188768294 0.00143
NM_031471.6(FERMT3):c.921C>T (p.Ser307=) rs78713523 0.00116
NM_031471.6(FERMT3):c.1692C>T (p.Asp564=) rs200243967 0.00057
NM_031471.6(FERMT3):c.930G>C (p.Val310=) rs199508330 0.00054
NM_031471.6(FERMT3):c.206A>C (p.Lys69Thr) rs146932041 0.00041
NM_031471.6(FERMT3):c.1430G>A (p.Arg477His) rs199749996 0.00019
NM_031471.6(FERMT3):c.1393G>A (p.Glu465Lys) rs373999037 0.00016
NM_031471.6(FERMT3):c.1029+14C>T rs201218236 0.00009
NM_031471.6(FERMT3):c.1545+13G>A rs536991493 0.00006
NM_031471.6(FERMT3):c.1671-14T>C rs201170855 0.00004
NM_031471.6(FERMT3):c.1722G>C (p.Leu574=) rs769738360 0.00004
NM_031471.6(FERMT3):c.1312-11del
NM_031471.6(FERMT3):c.1671-15C>G rs78324705
NM_031471.6(FERMT3):c.1813-15_1813-14del rs528684268
NM_031471.6(FERMT3):c.1914G>C (p.Ser638=) rs192928228
NM_031471.6(FERMT3):c.515-7A>T
NM_031471.6(FERMT3):c.684-10C>G rs201247420
NM_031471.6(FERMT3):c.787-8del rs748191376
NM_031471.6(FERMT3):c.787-8dup rs748191376

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