ClinVar Miner

List of variants studied for bone benign neoplasm

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_015922.3(NSDHL):c.132T>G (p.Gly44=) rs5969919 0.83345
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu) rs139186585 0.00143
NM_015922.3(NSDHL):c.306C>T (p.Phe102=) rs141089248 0.00138
NM_015922.3(NSDHL):c.834C>T (p.Phe278=) rs149698967 0.00057
NM_015922.3(NSDHL):c.351T>C (p.Phe117=) rs138711934 0.00045
NM_015922.3(NSDHL):c.678C>T (p.Phe226=) rs147293409 0.00044
NM_015922.3(NSDHL):c.*129C>T rs145978994 0.00030
NM_015922.3(NSDHL):c.987C>T (p.Val329=) rs149122192 0.00017
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) rs397514840 0.00003
NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln) rs781879080 0.00002
NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser) rs782332983 0.00002
NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg) rs782141957 0.00002
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199 0.00001
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala) rs371093730 0.00001
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=) rs1555533268 0.00001
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu) rs145580873 0.00001
NM_015922.3(NSDHL):c.612C>T (p.Phe204=) rs782252634 0.00001
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu) rs143494325
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg) rs121913399
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) rs121913399
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg) rs2125017628
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs) rs797045835
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys) rs137853863
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) rs142351862
NM_015922.3(NSDHL):c.1114del (p.Val372fs) rs587784222
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.268-15dup rs782031217
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu) rs1602937895
NM_015922.3(NSDHL):c.387del (p.Ile129fs)
NM_015922.3(NSDHL):c.43C>T (p.Arg15Trp)
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter) rs104894905
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro) rs104894904
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys) rs587784223
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter) rs104894902
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) rs587784224
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter) rs141571609
NM_015922.3(NSDHL):c.904del (p.Tyr302fs) rs587784225
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter) rs587784226

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