ClinVar Miner

List of variants in gene TRPS1 reported as benign for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_014112.5(TRPS1):c.-9dup rs35329862 0.30691
NM_014112.5(TRPS1):c.423G>T (p.Pro141=) rs7823278 0.13335
NM_014112.5(TRPS1):c.2700+10T>C rs76046106 0.03410
NM_014112.5(TRPS1):c.1788T>C (p.Tyr596=) rs34094363 0.01557
NM_014112.5(TRPS1):c.2766G>A (p.Lys922=) rs34786438 0.01390
NM_014112.5(TRPS1):c.816G>A (p.Glu272=) rs7016652 0.00169
NM_014112.5(TRPS1):c.2658G>T (p.Ser886=) rs191525942 0.00158
NM_014112.5(TRPS1):c.2823+15C>A rs201296334 0.00143
NM_014112.5(TRPS1):c.1544C>T (p.Ser515Leu) rs142784032 0.00134
NM_014112.5(TRPS1):c.2485C>G (p.Pro829Ala) rs78472570 0.00088
NM_014112.5(TRPS1):c.2976G>A (p.Pro992=) rs201030937 0.00076
NM_014112.5(TRPS1):c.1164A>G (p.Ser388=) rs138244006 0.00061
NM_014112.5(TRPS1):c.2223G>A (p.Glu741=) rs199732237 0.00056
NM_014112.5(TRPS1):c.2701-13T>C rs748717384 0.00050
NM_014112.5(TRPS1):c.967-14C>T rs200044397 0.00041
NM_014112.5(TRPS1):c.2701-9_2701-8del rs368655299 0.00038
NM_014112.5(TRPS1):c.2460C>T (p.Thr820=) rs373410728 0.00035
NM_014112.5(TRPS1):c.3015C>G (p.His1005Gln) rs199839411 0.00034
NM_014112.5(TRPS1):c.665A>G (p.Asn222Ser) rs61745721 0.00034
NM_014112.5(TRPS1):c.1456G>A (p.Asp486Asn) rs34474186 0.00013
NM_014112.5(TRPS1):c.1857G>A (p.Ala619=) rs201618790 0.00011
NM_014112.5(TRPS1):c.542A>G (p.Gln181Arg) rs202001185 0.00010
NM_014112.5(TRPS1):c.3482A>G (p.Asn1161Ser) rs547426784 0.00001
NM_014112.5(TRPS1):c.1299C>G (p.Leu433=) rs370007078
NM_014112.5(TRPS1):c.1587G>A (p.Glu529=)
NM_014112.5(TRPS1):c.2282A>G (p.Asn761Ser)
NM_014112.5(TRPS1):c.2301T>C (p.Ser767=)
NM_014112.5(TRPS1):c.2409C>T (p.Arg803=)
NM_014112.5(TRPS1):c.2700+29A>C rs2293889
NM_014112.5(TRPS1):c.271G>A (p.Ala91Thr)
NM_014112.5(TRPS1):c.2824-17G>A
NM_014112.5(TRPS1):c.2958G>A (p.Glu986=)
NM_014112.5(TRPS1):c.523G>A (p.Glu175Lys)

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