ClinVar Miner

List of variants in gene combination FANCA, LOC112486223 reported as uncertain significance for bone disorder

Included ClinVar conditions (1350):
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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444 0.04436
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754 0.00024
NM_000135.4(FANCA):c.79+10C>T rs573174362 0.00015
NM_000135.4(FANCA):c.-18G>A rs886038245 0.00014
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg) rs943773590 0.00006
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser) rs757468756 0.00004
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr) rs965036018 0.00002
NM_000135.4(FANCA):c.-28C>G rs886052490 0.00001
NM_000135.4(FANCA):c.39G>C (p.Gln13His) rs1486155993 0.00001
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729 0.00001
NM_000135.4(FANCA):c.47G>A (p.Gly16Glu) rs908258968 0.00001
NM_000135.4(FANCA):c.55C>T (p.Arg19Trp) rs1300733063 0.00001
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136 0.00001
NM_000135.4(FANCA):c.7G>C (p.Asp3His) rs1246636933 0.00001
NM_000135.4(FANCA):c.8A>C (p.Asp3Ala) rs1183087111 0.00001
NM_000135.4(FANCA):c.11C>T (p.Ser4Leu)
NM_000135.4(FANCA):c.15G>C (p.Trp5Cys) rs2143731999
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup) rs1555581601
NM_000135.4(FANCA):c.17T>G (p.Val6Gly) rs1800282
NM_000135.4(FANCA):c.18C>G (p.Val6=) rs916719756
NM_000135.4(FANCA):c.19C>A (p.Pro7Thr)
NM_000135.4(FANCA):c.19C>G (p.Pro7Ala) rs780667753
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser) rs780667753
NM_000135.4(FANCA):c.20C>A (p.Pro7Gln) rs772712346
NM_000135.4(FANCA):c.20C>G (p.Pro7Arg) rs772712346
NM_000135.4(FANCA):c.23A>T (p.Asn8Ile) rs757468756
NM_000135.4(FANCA):c.24C>A (p.Asn8Lys)
NM_000135.4(FANCA):c.24_25delinsGG (p.Asn8_Ser9delinsLysAla)
NM_000135.4(FANCA):c.25_26delinsCT (p.Ser9Leu) rs2143731757
NM_000135.4(FANCA):c.26C>A (p.Ser9Tyr) rs752776388
NM_000135.4(FANCA):c.26C>G (p.Ser9Cys) rs752776388
NM_000135.4(FANCA):c.26C>T (p.Ser9Phe) rs752776388
NM_000135.4(FANCA):c.37C>G (p.Gln13Glu) rs766131144
NM_000135.4(FANCA):c.38A>G (p.Gln13Arg) rs1264855885
NM_000135.4(FANCA):c.42C>G (p.Asp14Glu) rs750021837
NM_000135.4(FANCA):c.44C>T (p.Pro15Leu)
NM_000135.4(FANCA):c.46G>A (p.Gly16Arg)
NM_000135.4(FANCA):c.49G>T (p.Gly17Cys)
NM_000135.4(FANCA):c.4T>G (p.Ser2Ala) rs2041144813
NM_000135.4(FANCA):c.50G>A (p.Gly17Asp)
NM_000135.4(FANCA):c.50G>C (p.Gly17Ala) rs1326963514
NM_000135.4(FANCA):c.53G>A (p.Arg18His)
NM_000135.4(FANCA):c.5C>G (p.Ser2Cys) rs928016876
NM_000135.4(FANCA):c.5C>T (p.Ser2Phe) rs928016876
NM_000135.4(FANCA):c.65G>C (p.Trp22Ser) rs761341952
NM_000135.4(FANCA):c.68C>A (p.Ala23Asp)
NM_000135.4(FANCA):c.68C>T (p.Ala23Val) rs776297241
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg) rs886052489
NM_000135.4(FANCA):c.76C>G (p.Leu26Val) rs2041137276
NM_000135.4(FANCA):c.79+4G>A rs2041136967
NM_000135.4(FANCA):c.79+4G>C rs2041136967
NM_000135.4(FANCA):c.79+6T>C
NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr) rs1246636933
NM_000135.4(FANCA):c.8_28dup (p.Asp3_Ser9dup) rs2143731691

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