List of variants in gene combination FANCA, LOC132090450 reported as uncertain significance for bone disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.3408+9C>G	rs377702890	0.00040
NM_000135.4(FANCA):c.3373G>A (p.Ala1125Thr)	rs1162813981	0.00001
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu)	rs1439817346	0.00001
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His)	rs768851109	0.00001
NM_000135.4(FANCA):c.3389T>C (p.Ile1130Thr)	rs2038408218	0.00001
NM_000135.4(FANCA):c.3377T>C (p.Leu1126Pro)	rs2038408800
NM_000135.4(FANCA):c.3388A>G (p.Ile1130Val)	rs2038408286
NM_000135.4(FANCA):c.3390C>G (p.Ile1130Met)	rs373168838
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile)	rs2143109078
NM_000135.4(FANCA):c.3395C>T (p.Ala1132Val)	rs2544120706
NM_000135.4(FANCA):c.3397del (p.His1133fs)	rs758917273
NM_000135.4(FANCA):c.3404T>G (p.Phe1135Cys)	rs2143108985
NM_000135.4(FANCA):c.3408+1G>A	rs1567601557
NM_000135.4(FANCA):c.3408+6A>T	rs1269046351

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