ClinVar Miner

List of variants reported as uncertain significance for Marfan and Marfan-related disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.2420-58del rs149403312 0.01826
NM_000138.5(FBN1):c.1714+54del rs193922184 0.00156
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000138.5(FBN1):c.539-15del rs193922211 0.00026
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser) rs193922242 0.00003
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.-117del rs193922178
NM_000138.5(FBN1):c.165-32del rs193922180
NM_000138.5(FBN1):c.165-46CTT[2] rs386134232
NM_000138.5(FBN1):c.2855-8T>C rs193922195
NM_000138.5(FBN1):c.3589+11TTTTA[7] rs72158035
NM_000138.5(FBN1):c.3589+11TTTTA[8] rs72158035
NM_000138.5(FBN1):c.4747+5G>C rs193922209
NM_000138.5(FBN1):c.5545+12C>T rs193922213
NM_000138.5(FBN1):c.5672-3T>C rs193922217
NM_000138.5(FBN1):c.5788+5G>T rs193922219
NM_000138.5(FBN1):c.6380-83del rs193922222
NM_000138.5(FBN1):c.6998-40del rs193922229
NM_000138.5(FBN1):c.7820-3C>G rs193922237
NM_000138.5(FBN1):c.8226+5G>T rs193922243
NM_004612.4(TGFBR1):c.344-74del rs193922675

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