ClinVar Miner

List of variants reported as likely benign for Klippel-Feil syndrome 1, autosomal dominant by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) rs139075817 0.00217
NM_001001557.4(GDF6):c.125G>T (p.Gly42Val) rs121909354 0.00098
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro) rs63751220 0.00090
NM_001001557.4(GDF6):c.407-3C>T rs374740957 0.00026
NM_001001557.4(GDF6):c.429C>T (p.Leu143=) rs375992269 0.00020
NM_001001557.4(GDF6):c.24C>G (p.Leu8=) rs369859861 0.00016
NM_001001557.4(GDF6):c.435A>G (p.Arg145=) rs369127445 0.00016
NM_001001557.4(GDF6):c.483G>T (p.Leu161=) rs200585226 0.00009
NM_001001557.4(GDF6):c.90C>G (p.Ser30=) rs143020575 0.00009
NM_001001557.4(GDF6):c.957C>A (p.Ala319=) rs757525366 0.00009
NM_001001557.4(GDF6):c.1071G>A (p.Lys357=) rs151332138 0.00007
NM_001001557.4(GDF6):c.700C>A (p.Arg234=) rs889118413 0.00006
NM_001001557.4(GDF6):c.726C>T (p.Ala242=) rs879574630 0.00006
NM_001001557.4(GDF6):c.186G>C (p.Arg62=) rs781205930 0.00005
NM_001001557.4(GDF6):c.30C>A (p.Ala10=) rs778071820 0.00004
NM_001001557.4(GDF6):c.528C>T (p.Pro176=) rs548565578 0.00004
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) rs121909353 0.00003
NM_001001557.4(GDF6):c.1293A>G (p.Leu431=) rs768948963 0.00003
NM_001001557.4(GDF6):c.33C>T (p.Val11=) rs756577201 0.00003
NM_001001557.4(GDF6):c.407-19A>G rs1445514042 0.00003
NM_001001557.4(GDF6):c.594C>T (p.Asp198=) rs994022206 0.00003
NM_001001557.4(GDF6):c.1233C>T (p.Asp411=) rs774375234 0.00002
NM_001001557.4(GDF6):c.1302C>T (p.Asp434=) rs138730867 0.00002
NM_001001557.4(GDF6):c.18C>T (p.Val6=) rs745979763 0.00002
NM_001001557.4(GDF6):c.546G>A (p.Gly182=) rs528471783 0.00002
NM_001001557.4(GDF6):c.1140C>T (p.Ala380=) rs1266231101 0.00001
NM_001001557.4(GDF6):c.123G>A (p.Lys41=) rs756381156 0.00001
NM_001001557.4(GDF6):c.1254C>T (p.Ser418=) rs1195615332 0.00001
NM_001001557.4(GDF6):c.157C>A (p.Arg53=) rs753326851 0.00001
NM_001001557.4(GDF6):c.225C>T (p.Pro75=) rs763584976 0.00001
NM_001001557.4(GDF6):c.246G>T (p.Ala82=) rs770548453 0.00001
NM_001001557.4(GDF6):c.267T>C (p.Gly89=) rs769923080 0.00001
NM_001001557.4(GDF6):c.27G>A (p.Ser9=) rs1215904741 0.00001
NM_001001557.4(GDF6):c.403C>T (p.Leu135=) rs1021290257 0.00001
NM_001001557.4(GDF6):c.407-5C>T rs758091453 0.00001
NM_001001557.4(GDF6):c.492G>C (p.Ala164=) rs757029731 0.00001
NM_001001557.4(GDF6):c.534G>T (p.Gly178=) rs756016892 0.00001
NM_001001557.4(GDF6):c.583C>T (p.Leu195=) rs777218109 0.00001
NM_001001557.4(GDF6):c.606G>T (p.Leu202=) rs749079662 0.00001
NM_001001557.4(GDF6):c.642C>A (p.Val214=) rs1343770559 0.00001
NM_001001557.4(GDF6):c.675C>T (p.Pro225=) rs1199396087 0.00001
NM_001001557.4(GDF6):c.709T>C (p.Trp237Arg) rs1036909955 0.00001
NM_001001557.4(GDF6):c.885G>A (p.Glu295=) rs565004364 0.00001
NM_001001557.4(GDF6):c.924C>A (p.Gly308=) rs1586118480 0.00001
NM_001001557.4(GDF6):c.948G>A (p.Pro316=) rs774587683 0.00001
NM_001001557.4(GDF6):c.1008G>A (p.Thr336=)
NM_001001557.4(GDF6):c.1011C>A (p.Ala337=)
NM_001001557.4(GDF6):c.1032G>A (p.Lys344=)
NM_001001557.4(GDF6):c.1038C>T (p.His346=)
NM_001001557.4(GDF6):c.1116T>C (p.Ile372=)
NM_001001557.4(GDF6):c.1122G>C (p.Ala374=)
NM_001001557.4(GDF6):c.1125C>G (p.Pro375=)
NM_001001557.4(GDF6):c.1146C>T (p.His382=)
NM_001001557.4(GDF6):c.1173G>A (p.Leu391=) rs1812441998
NM_001001557.4(GDF6):c.1179G>T (p.Ser393=)
NM_001001557.4(GDF6):c.1194C>A (p.Thr398=) rs767633784
NM_001001557.4(GDF6):c.1212G>A (p.Gln404=)
NM_001001557.4(GDF6):c.1242C>T (p.Ser414=)
NM_001001557.4(GDF6):c.1248G>T (p.Pro416=)
NM_001001557.4(GDF6):c.1296C>T (p.Tyr432=)
NM_001001557.4(GDF6):c.1347G>A (p.Val449=)
NM_001001557.4(GDF6):c.1353G>C (p.Ser451=)
NM_001001557.4(GDF6):c.1365G>A (p.Arg455=)
NM_001001557.4(GDF6):c.1365G>T (p.Arg455Ser)
NM_001001557.4(GDF6):c.141G>A (p.Lys47=)
NM_001001557.4(GDF6):c.144A>G (p.Glu48=)
NM_001001557.4(GDF6):c.168C>G (p.Arg56=)
NM_001001557.4(GDF6):c.180G>A (p.Ala60=)
NM_001001557.4(GDF6):c.19C>T (p.Leu7=)
NM_001001557.4(GDF6):c.201A>G (p.Pro67=) rs2130238034
NM_001001557.4(GDF6):c.207G>T (p.Pro69=) rs2130238023
NM_001001557.4(GDF6):c.213T>G (p.Pro71=) rs1465598776
NM_001001557.4(GDF6):c.246G>A (p.Ala82=)
NM_001001557.4(GDF6):c.252G>A (p.Glu84=)
NM_001001557.4(GDF6):c.258A>T (p.Pro86=) rs2130237722
NM_001001557.4(GDF6):c.273C>A (p.Arg91=)
NM_001001557.4(GDF6):c.276G>A (p.Val92=)
NM_001001557.4(GDF6):c.281C>G (p.Pro94Arg) rs367883918
NM_001001557.4(GDF6):c.295C>T (p.Leu99=) rs746383854
NM_001001557.4(GDF6):c.306C>T (p.Tyr102=)
NM_001001557.4(GDF6):c.327G>A (p.Glu109=)
NM_001001557.4(GDF6):c.335G>C (p.Gly112Ala)
NM_001001557.4(GDF6):c.339C>T (p.Ile113=)
NM_001001557.4(GDF6):c.363C>T (p.Ser121=)
NM_001001557.4(GDF6):c.366G>A (p.Lys122=)
NM_001001557.4(GDF6):c.36C>T (p.Phe12=)
NM_001001557.4(GDF6):c.378G>T (p.Thr126=) rs1812738202
NM_001001557.4(GDF6):c.387C>T (p.Ser129=) rs2130237359
NM_001001557.4(GDF6):c.393A>G (p.Val131=) rs2130237356
NM_001001557.4(GDF6):c.398G>A (p.Arg133Lys) rs2130237348
NM_001001557.4(GDF6):c.399G>A (p.Arg133=)
NM_001001557.4(GDF6):c.406+11A>G
NM_001001557.4(GDF6):c.406+15A>C
NM_001001557.4(GDF6):c.406+17A>G rs779812603
NM_001001557.4(GDF6):c.406+19G>A
NM_001001557.4(GDF6):c.406+19G>T
NM_001001557.4(GDF6):c.407-9A>G
NM_001001557.4(GDF6):c.420C>T (p.His140=) rs375769410
NM_001001557.4(GDF6):c.432G>C (p.Arg144=)
NM_001001557.4(GDF6):c.468A>G (p.Ser156=)
NM_001001557.4(GDF6):c.513G>A (p.Gln171=) rs2130208153
NM_001001557.4(GDF6):c.534G>A (p.Gly178=)
NM_001001557.4(GDF6):c.549G>T (p.Pro183=)
NM_001001557.4(GDF6):c.558G>A (p.Val186=)
NM_001001557.4(GDF6):c.598C>A (p.Arg200=)
NM_001001557.4(GDF6):c.603C>T (p.Thr201=)
NM_001001557.4(GDF6):c.604C>T (p.Leu202=) rs1175841699
NM_001001557.4(GDF6):c.612G>A (p.Pro204=) rs777541984
NM_001001557.4(GDF6):c.612G>T (p.Pro204=)
NM_001001557.4(GDF6):c.627G>A (p.Pro209=)
NM_001001557.4(GDF6):c.727G>T (p.Gly243Trp)
NM_001001557.4(GDF6):c.72G>A (p.Gln24=)
NM_001001557.4(GDF6):c.756C>T (p.Pro252=)
NM_001001557.4(GDF6):c.75G>A (p.Gln25=) rs776298591
NM_001001557.4(GDF6):c.765G>T (p.Pro255=)
NM_001001557.4(GDF6):c.774G>C (p.Pro258=) rs769581547
NM_001001557.4(GDF6):c.774G>T (p.Pro258=)
NM_001001557.4(GDF6):c.832C>T (p.Leu278=) rs2130206656
NM_001001557.4(GDF6):c.861G>A (p.Lys287=)
NM_001001557.4(GDF6):c.870C>T (p.Phe290=) rs765928590
NM_001001557.4(GDF6):c.897G>A (p.Ser299=)
NM_001001557.4(GDF6):c.897G>C (p.Ser299=)
NM_001001557.4(GDF6):c.903G>A (p.Glu301=) rs2130206381
NM_001001557.4(GDF6):c.915G>A (p.Pro305=) rs1399835264
NM_001001557.4(GDF6):c.915G>C (p.Pro305=)
NM_001001557.4(GDF6):c.923_928dup (p.306GA[3]) rs1224736770
NM_001001557.4(GDF6):c.942G>A (p.Pro314=)
NM_001001557.4(GDF6):c.951G>T (p.Ser317=)
NM_001001557.4(GDF6):c.955G>A (p.Ala319Thr) rs779322747
NM_001001557.4(GDF6):c.960G>A (p.Pro320=)
NM_001001557.4(GDF6):c.96GTC[1] (p.Ser34del) rs141468446
NM_001001557.4(GDF6):c.996G>T (p.Arg332=)

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