ClinVar Miner

List of variants in gene GALNS, LOC130059762, TRAPPC2L studied for Mucopolysaccharidosis, MPS-IV-A

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_000512.4(GALNS):c.-92T>C rs116702472 0.03132
NM_000512.5(GALNS):c.-68C>T rs144789309 0.01019
NM_000512.5(GALNS):c.-32C>T rs556283159 0.00350
NM_000512.5(GALNS):c.-54G>A rs369448232 0.00280
NM_000512.5(GALNS):c.120+14G>A rs368397682 0.00007
NM_000512.5(GALNS):c.39G>A (p.Leu13=) rs767326423 0.00006
NM_000512.5(GALNS):c.24G>A (p.Thr8=) rs904615956 0.00004
NM_000512.5(GALNS):c.97A>G (p.Ile33Val) rs768296954 0.00004
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg) rs755832705 0.00003
NM_000512.5(GALNS):c.102G>A (p.Leu34=) rs748866414 0.00002
NM_000512.5(GALNS):c.47T>G (p.Val16Gly) rs794729202 0.00002
NM_000512.5(GALNS):c.106C>T (p.Leu36=) rs779849307 0.00001
NM_000512.5(GALNS):c.118G>C (p.Asp40His) rs1967935603 0.00001
NM_000512.5(GALNS):c.13G>A (p.Val5Ile) rs1415400985 0.00001
NM_000512.5(GALNS):c.1A>G (p.Met1Val) rs771531650 0.00001
NM_000512.5(GALNS):c.1A>T (p.Met1Leu) rs771531650 0.00001
NM_000512.5(GALNS):c.53G>C (p.Ser18Thr) rs763093375 0.00001
NM_000512.5(GALNS):c.66G>T (p.Met22Ile) rs1427287935 0.00001
NC_000016.10:g.(?_88856738)_(88856897_?)del
NC_000016.10:g.88856801_88856960del
NM_000512.5(GALNS):c.-10C>G rs781533703
NM_000512.5(GALNS):c.-1_6delinsT (p.Met1_Ala2del) rs2143013673
NM_000512.5(GALNS):c.-2_13del (p.Met1_Val5del)
NM_000512.5(GALNS):c.-42G>T rs1433642862
NM_000512.5(GALNS):c.-58C>A rs1244075467
NM_000512.5(GALNS):c.-58C>G rs1244075467
NM_000512.5(GALNS):c.100C>G (p.Leu34Val) rs1352806619
NM_000512.5(GALNS):c.100C>T (p.Leu34=)
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del) rs794726887
NM_000512.5(GALNS):c.102G>C (p.Leu34=)
NM_000512.5(GALNS):c.102G>T (p.Leu34=)
NM_000512.5(GALNS):c.105C>A (p.Leu35=)
NM_000512.5(GALNS):c.105C>G (p.Leu35=)
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro) rs755832705
NM_000512.5(GALNS):c.111C>T (p.Leu37=)
NM_000512.5(GALNS):c.112A>C (p.Met38Leu) rs1306083557
NM_000512.5(GALNS):c.115G>T (p.Asp39Tyr) rs2143013504
NM_000512.5(GALNS):c.115_116del (p.Asp39fs) rs1967936031
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly) rs1967935882
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn) rs1967935603
NM_000512.5(GALNS):c.118G>T (p.Asp40Tyr)
NM_000512.5(GALNS):c.119A>G (p.Asp40Gly) rs1967935467
NM_000512.5(GALNS):c.120+12C>G
NM_000512.5(GALNS):c.120+12C>T
NM_000512.5(GALNS):c.120+13G>A
NM_000512.5(GALNS):c.120+13G>C
NM_000512.5(GALNS):c.120+13G>T
NM_000512.5(GALNS):c.120+19A>C
NM_000512.5(GALNS):c.120+19_120+29del
NM_000512.5(GALNS):c.120+1G>A rs911877265
NM_000512.5(GALNS):c.120+1G>C rs911877265
NM_000512.5(GALNS):c.120+20C>T
NM_000512.5(GALNS):c.120+4A>G rs1213209894
NM_000512.5(GALNS):c.120+8C>G
NM_000512.5(GALNS):c.120+9G>T
NM_000512.5(GALNS):c.15C>A (p.Val5=)
NM_000512.5(GALNS):c.18G>T (p.Ala6=)
NM_000512.5(GALNS):c.21G>A (p.Ala7=)
NM_000512.5(GALNS):c.21G>C (p.Ala7=)
NM_000512.5(GALNS):c.23C>G (p.Thr8Arg) rs2143013653
NM_000512.5(GALNS):c.24G>C (p.Thr8=)
NM_000512.5(GALNS):c.29G>A (p.Trp10Ter) rs1967945316
NM_000512.5(GALNS):c.2T>C (p.Met1Thr)
NM_000512.5(GALNS):c.31T>C (p.Trp11Arg)
NM_000512.5(GALNS):c.34C>T (p.Gln12Ter) rs911452920
NM_000512.5(GALNS):c.3G>A (p.Met1Ile) rs2143013681
NM_000512.5(GALNS):c.42G>A (p.Leu14=)
NM_000512.5(GALNS):c.43C>A (p.Leu15Met) rs866745731
NM_000512.5(GALNS):c.45G>A (p.Leu15=)
NM_000512.5(GALNS):c.46G>T (p.Val16Leu)
NM_000512.5(GALNS):c.47T>A (p.Val16Glu) rs794729202
NM_000512.5(GALNS):c.60G>A (p.Ala20=)
NM_000512.5(GALNS):c.63G>T (p.Gly21=)
NM_000512.5(GALNS):c.67G>C (p.Gly23Arg) rs2143013593
NM_000512.5(GALNS):c.75G>C (p.Ser25=)
NM_000512.5(GALNS):c.77G>A (p.Gly26Asp) rs1210023208
NM_000512.5(GALNS):c.77dup (p.Ala27fs) rs2143013573
NM_000512.5(GALNS):c.81C>T (p.Ala27=)
NM_000512.5(GALNS):c.84G>C (p.Pro28=)
NM_000512.5(GALNS):c.85C>T (p.Gln29Ter) rs1287332192
NM_000512.5(GALNS):c.87G>A (p.Gln29=)
NM_000512.5(GALNS):c.89C>T (p.Pro30Leu) rs1298604798
NM_000512.5(GALNS):c.90C>G (p.Pro30=) rs1967938638
NM_000512.5(GALNS):c.93del (p.Asn32fs)
NM_000512.5(GALNS):c.94A>G (p.Asn32Asp) rs2143013538
NM_000512.5(GALNS):c.95A>C (p.Asn32Thr) rs773933657
NM_000512.5(GALNS):c.96C>T (p.Asn32=)
NM_000512.5(GALNS):c.9G>T (p.Ala3=)

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