ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive spondylocostal dysostosis by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001040167.2(LFNG):c.482-3C>T rs199745512 0.00047
NM_001040167.2(LFNG):c.100C>A (p.Pro34Thr) rs965725102 0.00034
NM_001040167.2(LFNG):c.715C>T (p.Arg239Trp) rs143479850 0.00019
NM_001040167.2(LFNG):c.284C>T (p.Ala95Val) rs765904263 0.00017
NM_001040167.2(LFNG):c.1078C>T (p.Arg360Cys) rs763938391 0.00014
NM_001040167.2(LFNG):c.1003G>A (p.Gly335Ser) rs764991226 0.00011
NM_001040167.2(LFNG):c.295G>A (p.Ala99Thr) rs903013824 0.00010
NM_001040167.2(LFNG):c.559C>T (p.Arg187Cys) rs764283232 0.00008
NM_001040167.2(LFNG):c.37C>G (p.Leu13Val) rs1425455790 0.00007
NM_001040167.2(LFNG):c.479C>T (p.Thr160Met) rs769574441 0.00007
NM_001040167.2(LFNG):c.1063G>A (p.Asp355Asn) rs780649312 0.00006
NM_001040167.2(LFNG):c.1123C>T (p.Arg375Cys) rs746683505 0.00006
NM_001040167.2(LFNG):c.266G>T (p.Gly89Val) rs938320862 0.00006
NM_001040167.2(LFNG):c.368A>G (p.Lys123Arg) rs758997792 0.00006
NM_001040167.2(LFNG):c.673G>A (p.Val225Ile) rs76051534 0.00006
NM_001040167.2(LFNG):c.823G>A (p.Gly275Arg) rs771781393 0.00006
NM_001040167.2(LFNG):c.737G>A (p.Arg246His) rs374389689 0.00005
NM_001040167.2(LFNG):c.1124G>A (p.Arg375His) rs770669804 0.00004
NM_001040167.2(LFNG):c.661C>T (p.Arg221Trp) rs377387325 0.00004
NM_001040167.2(LFNG):c.557A>G (p.Asp186Gly) rs753021502 0.00003
NM_001040167.2(LFNG):c.635G>A (p.Arg212Gln) rs760610052 0.00003
NM_001040167.2(LFNG):c.1022G>A (p.Arg341Gln) rs201290357 0.00002
NM_001040167.2(LFNG):c.506C>T (p.Ser169Leu) rs371707730 0.00002
NM_001040167.2(LFNG):c.521G>A (p.Arg174His) rs771675182 0.00002
NM_001040167.2(LFNG):c.287C>G (p.Pro96Arg) rs1468105982 0.00001
NM_001040167.2(LFNG):c.308C>T (p.Pro103Leu) rs747331172 0.00001
NM_001040167.2(LFNG):c.369A>C (p.Lys123Asn) rs1779752729 0.00001
NM_001040167.2(LFNG):c.547G>A (p.Val183Met) rs527357436 0.00001
NM_001040167.2(LFNG):c.560G>A (p.Arg187His) rs372894218 0.00001
NM_001040167.2(LFNG):c.643G>A (p.Ala215Thr) rs1160316709 0.00001
NM_001040167.2(LFNG):c.766G>A (p.Gly256Ser) rs1437427476 0.00001
NM_001040167.2(LFNG):c.812C>T (p.Pro271Leu) rs763392875 0.00001
NM_001040167.2(LFNG):c.842C>T (p.Thr281Met) rs760970272 0.00001
NM_001040167.2(LFNG):c.987G>A (p.Gln329=) rs1779976779 0.00001
NC_000007.13:g.(?_2559496)_(2587132_?)dup
NM_001040167.2(LFNG):c.1005_1013dup (p.Phe337_Glu338insAspMetPhe)
NM_001040167.2(LFNG):c.1008G>A (p.Met336Ile)
NM_001040167.2(LFNG):c.1013A>T (p.Glu338Val) rs770620949
NM_001040167.2(LFNG):c.10C>G (p.Arg4Gly) rs1341252096
NM_001040167.2(LFNG):c.10C>T (p.Arg4Cys)
NM_001040167.2(LFNG):c.112G>T (p.Gly38Cys)
NM_001040167.2(LFNG):c.131G>T (p.Ser44Ile) rs1369297768
NM_001040167.2(LFNG):c.137C>T (p.Ala46Val)
NM_001040167.2(LFNG):c.140G>A (p.Gly47Asp) rs1322872527
NM_001040167.2(LFNG):c.157C>G (p.Pro53Ala)
NM_001040167.2(LFNG):c.197_198delinsTT (p.Ala66Val) rs1562551243
NM_001040167.2(LFNG):c.214C>T (p.His72Tyr) rs1779742939
NM_001040167.2(LFNG):c.245C>A (p.Thr82Asn) rs1405255261
NM_001040167.2(LFNG):c.271C>T (p.Pro91Ser)
NM_001040167.2(LFNG):c.299A>T (p.Asp100Val)
NM_001040167.2(LFNG):c.306C>A (p.His102Gln)
NM_001040167.2(LFNG):c.307C>G (p.Pro103Ala) rs778333281
NM_001040167.2(LFNG):c.334C>A (p.Pro112Thr)
NM_001040167.2(LFNG):c.41C>G (p.Ala14Gly)
NM_001040167.2(LFNG):c.434C>A (p.Thr145Lys) rs1413169361
NM_001040167.2(LFNG):c.46G>A (p.Ala16Thr) rs1779735531
NM_001040167.2(LFNG):c.508G>A (p.Ala170Thr)
NM_001040167.2(LFNG):c.566T>C (p.Ile189Thr) rs984175416
NM_001040167.2(LFNG):c.568G>A (p.Glu190Lys)
NM_001040167.2(LFNG):c.569A>T (p.Glu190Val)
NM_001040167.2(LFNG):c.620T>A (p.Leu207Gln)
NM_001040167.2(LFNG):c.659C>T (p.Thr220Met)
NM_001040167.2(LFNG):c.67G>T (p.Val23Leu) rs2128375068
NM_001040167.2(LFNG):c.716G>A (p.Arg239Gln)
NM_001040167.2(LFNG):c.788G>A (p.Arg263His) rs201864741
NM_001040167.2(LFNG):c.788G>T (p.Arg263Leu) rs201864741
NM_001040167.2(LFNG):c.810C>A (p.Ser270Arg) rs764879786
NM_001040167.2(LFNG):c.822-19G>A
NM_001040167.2(LFNG):c.826G>C (p.Gly276Arg)
NM_001040167.2(LFNG):c.856C>T (p.Arg286Trp)
NM_001040167.2(LFNG):c.913C>T (p.Leu305Phe)
NM_001040167.2(LFNG):c.92C>T (p.Pro31Leu)
NM_001040167.2(LFNG):c.951C>A (p.Asn317Lys) rs1464471879

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