ClinVar Miner

List of variants in gene combination LOC129936056, SUMF1 reported as likely benign for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro) rs201984297 0.00085
NM_182760.4(SUMF1):c.192G>C (p.Ser64=) rs770050124 0.00006
NM_182760.4(SUMF1):c.237C>G (p.Pro79=) rs11555132 0.00006
NM_182760.4(SUMF1):c.183T>C (p.His61=) rs763328846 0.00004
NM_182760.4(SUMF1):c.233G>A (p.Gly78Asp) rs753398300 0.00004
NM_182760.4(SUMF1):c.270+10C>G rs567205880 0.00003
NM_182760.4(SUMF1):c.234C>A (p.Gly78=) rs763565087 0.00002
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu) rs752083773 0.00002
NM_182760.4(SUMF1):c.129G>C (p.Ala43=) rs1235708576 0.00001
NM_182760.4(SUMF1):c.132G>A (p.Gly44=) rs2470080355 0.00001
NM_182760.4(SUMF1):c.147T>C (p.Ser49=) rs1001732098 0.00001
NM_182760.4(SUMF1):c.180C>T (p.Ala60=) rs771318056 0.00001
NM_182760.4(SUMF1):c.231G>A (p.Pro77=) rs948603427 0.00001
NM_182760.4(SUMF1):c.267A>C (p.Ser89=) rs975694131 0.00001
NM_182760.4(SUMF1):c.102C>T (p.Ser34=) rs1575266809
NM_182760.4(SUMF1):c.111C>G (p.Ala37=) rs2124824066
NM_182760.4(SUMF1):c.111C>T (p.Ala37=) rs2124824066
NM_182760.4(SUMF1):c.114G>A (p.Gly38=) rs769786792
NM_182760.4(SUMF1):c.117C>G (p.Thr39=) rs2079975522
NM_182760.4(SUMF1):c.117C>T (p.Thr39=) rs2079975522
NM_182760.4(SUMF1):c.120T>A (p.Gly40=) rs2079975260
NM_182760.4(SUMF1):c.123G>A (p.Ala41=) rs2124823904
NM_182760.4(SUMF1):c.138T>C (p.Leu46=) rs2124823714
NM_182760.4(SUMF1):c.141G>A (p.Ala47=) rs1304137401
NM_182760.4(SUMF1):c.150C>T (p.Cys50=) rs761237429
NM_182760.4(SUMF1):c.162G>T (p.Thr54=) rs2470079856
NM_182760.4(SUMF1):c.168G>A (p.Gln56=) rs1575266526
NM_182760.4(SUMF1):c.177C>T (p.Gly59=) rs774739457
NM_182760.4(SUMF1):c.180C>A (p.Ala60=) rs771318056
NM_182760.4(SUMF1):c.180C>G (p.Ala60=) rs771318056
NM_182760.4(SUMF1):c.192G>T (p.Ser64=) rs770050124
NM_182760.4(SUMF1):c.210C>T (p.Tyr70=) rs2124822728
NM_182760.4(SUMF1):c.216G>A (p.Arg72=) rs2124822641
NM_182760.4(SUMF1):c.225C>T (p.Asn75=) rs1398783395
NM_182760.4(SUMF1):c.231G>C (p.Pro77=) rs948603427
NM_182760.4(SUMF1):c.234C>T (p.Gly78=) rs763565087
NM_182760.4(SUMF1):c.237C>A (p.Pro79=) rs11555132
NM_182760.4(SUMF1):c.237C>T (p.Pro79=) rs11555132
NM_182760.4(SUMF1):c.243C>G (p.Pro81=) rs763293580
NM_182760.4(SUMF1):c.252G>A (p.Arg84=) rs2470078187
NM_182760.4(SUMF1):c.255A>G (p.Gln85=) rs2470078160
NM_182760.4(SUMF1):c.258C>A (p.Leu86=) rs776950607
NM_182760.4(SUMF1):c.258C>G (p.Leu86=) rs776950607
NM_182760.4(SUMF1):c.261G>T (p.Ala87=) rs1332624112
NM_182760.4(SUMF1):c.267A>G (p.Ser89=) rs975694131
NM_182760.4(SUMF1):c.270+5_270+6dup rs2079965911
NM_182760.4(SUMF1):c.270+8A>G rs2124821916

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