ClinVar Miner

List of variants studied for Martsolf syndrome 1 by Reproductive Endocrine Unit, Massachusetts General Hospital

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004491.5(ARHGAP35):c.4297C>G (p.Pro1433Ala) rs200118092 0.00013
NM_178822.5(IGSF10):c.182G>A (p.Arg61His) rs371153588 0.00007
NM_175737.4(KLB):c.3086A>T (p.Lys1029Ile) rs200211529 0.00005
NM_004491.5(ARHGAP35):c.4240G>A (p.Ala1414Thr) rs11548676 0.00003
NM_006080.3(SEMA3A):c.2189G>A (p.Arg730Gln) rs318240752 0.00003
NM_004491.5(ARHGAP35):c.325C>T (p.Arg109Ter) rs1324454897 0.00001
NM_004491.5(ARHGAP35):c.4018G>A (p.Asp1340Asn) rs757603287 0.00001
NM_004491.5(ARHGAP35):c.4235T>C (p.Met1412Thr) rs768641837 0.00001
NM_004491.5(ARHGAP35):c.4255C>T (p.Arg1419Cys) rs768711914 0.00001
NM_023110.3(FGFR1):c.2182G>A (p.Glu728Lys) rs759382055 0.00001
NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter) rs886039395
NM_001030055.2(ARHGAP5):c.1504del (p.Tyr502fs) rs780339625
NM_001030055.2(ARHGAP5):c.2366dup (p.Phe790fs) rs2550691751
NM_004491.5(ARHGAP35):c.1800_1803del (p.Val601fs) rs2514159829
NM_004491.5(ARHGAP35):c.2565C>A (p.Tyr855Ter) rs188397648
NM_004491.5(ARHGAP35):c.3283_3286delinsT (p.Val1095_Lys1096delinsTer) rs2514162911
NM_004491.5(ARHGAP35):c.345del (p.Tyr116fs) rs2514156770
NM_004491.5(ARHGAP35):c.352A>T (p.Lys118Ter) rs2514156784
NM_004491.5(ARHGAP35):c.3569_3570del (p.Glu1190fs) rs2514163537
NM_004491.5(ARHGAP35):c.3850C>T (p.Arg1284Trp) rs2122336841
NM_004491.5(ARHGAP35):c.3992C>T (p.Pro1331Leu) rs2514226692
NM_004491.5(ARHGAP35):c.4049G>A (p.Arg1350Gln) rs757589554
NM_004491.5(ARHGAP35):c.4105C>G (p.His1369Asp) rs1249121166
NM_004491.5(ARHGAP35):c.516del (p.Asn173fs) rs2514157003
NM_006086.4(TUBB3):c.1031G>A (p.Trp344Ter) rs2544627987
NM_175737.4(KLB):c.878A>T (p.Lys293Met) rs1743421653

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