ClinVar Miner

List of variants in gene SUMF1 reported as benign for bone disorder

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.*471T>G rs2259818 0.96725
NM_182760.4(SUMF1):c.602+50G>A rs711666 0.90409
NM_182760.4(SUMF1):c.841-75C>T rs813811 0.66935
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852 0.66547
NM_182760.4(SUMF1):c.*675A>C rs14275 0.61157
NM_182760.4(SUMF1):c.*61T>C rs2819561 0.60822
NM_182760.4(SUMF1):c.*10A>G rs35083095 0.42905
NM_182760.4(SUMF1):c.*291G>A rs4685744 0.42078
NM_182760.4(SUMF1):c.*214A>G rs2819562 0.38611
NM_182760.4(SUMF1):c.*292T>A rs74979662 0.03368
NM_182760.4(SUMF1):c.*552T>G rs10514655 0.02952
NM_182760.4(SUMF1):c.*518T>C rs17040504 0.02173
NM_182760.4(SUMF1):c.602+13C>T rs80204284 0.01808
NM_182760.4(SUMF1):c.*805C>T rs79031951 0.01466
NM_182760.4(SUMF1):c.59T>G (p.Leu20Arg) rs79985808 0.01279
NM_182760.4(SUMF1):c.*917G>T rs116661242 0.01035
NM_182760.4(SUMF1):c.*189G>A rs116820538 0.00972
NM_182760.4(SUMF1):c.*92A>G rs150796088 0.00909
NM_182760.4(SUMF1):c.-9C>T rs148200251 0.00744
NM_182760.4(SUMF1):c.*210C>T rs115376966 0.00731
NM_182760.4(SUMF1):c.841-14G>A rs9852367 0.00720
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492 0.00285
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221 0.00199
NM_182760.4(SUMF1):c.*398C>T rs116909525 0.00111
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829 0.00016
NM_182760.4(SUMF1):c.725+14C>T rs370203683 0.00003
NM_182760.4(SUMF1):c.*11A>T rs2633851
NM_182760.4(SUMF1):c.*460_*463del rs71873849
NM_182760.4(SUMF1):c.*568G>A rs73022033
NM_182760.4(SUMF1):c.954+7A>G rs560003466
NM_182760.4(SUMF1):c.95C>T (p.Ala32Val) rs374677940

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